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|---|---|---|---|---|---|---|
test-201
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Patient-History
|
History
|
[
"The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months",
"multiple admissions for ketotic hypoglycemia and severe lactic acidosis"
] |
test-202
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Neurology
|
Neuro
|
[
"fatigue that has persisted for over 18 months"
] |
test-203
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"significant metabolic acidosis with low serum bicarbonate concentrations",
"low serum glucose of 3.05 mmol / L ( 55 mg / dL ) and very low plasma l -carnitine ( total carnitine:7 μmol / L, reference range : 25–69 ). Serum creatine phosphokinase ( CK ) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat / L ( 12,086 U / L ), AST at 341 U / L and ALT at 190 U / L.",
"multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy ( MRS ) showed lactate peaks in the left basal ganglion and lateral ventricle",
"a low cerebrospinal fluid ( CSF ) 5 - methyltetrahydrofolate level",
"urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3 - methylglutaconate, and branched - chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase ( EC 6.4.1.1 ), and pyruvate dehydrogenase complex ( EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4 ) with normal results. Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine ( in vitro probe assay ) showed marked elevations of long - chain species, suggestive of carnitine palmitoyltransferase II or carnitine – acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol / L ( < 2.8 ), and a low normal level of 5 - methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver ( 10 %; control range 3.3 + /− 1.7 % ) and muscle ( 3.0 %; control range 0.94 + /− 0.55 ). However, sequencing of PHKA1 and PHKG2 genes ( GSD IX ) and AGL gene ( GSD III ) was normal. Activities of debranching enzyme ( EC 2.4.1.25 GSD III ) and hepatic phosphorylase kinase ( GSD IX, EC 2.7.11.19 ) in the liver and muscle, and glucose-6 - phosphatase ( GSD Ia, EC 3.1.3.9 ) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain ( ETC ) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 ( mean 1461, standard deviation 473 ); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu - Ala - Thr ( m.15319_15327delCCTAGCAAC; p. Leu192_Thr194del, Fig. 2 ) in the MT - CYB gene encoding cytochrome b subunit of complex III, with > 90 % mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts."
] |
test-204
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Cardiovascular-System
|
CVS
|
[
"ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal."
] |
test-205
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Endocrinology
|
ENDO
|
[] |
test-206
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Genitourinary-System
|
GU
|
[] |
test-207
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Respiratory-System
|
RESP
|
[] |
test-208
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Musculoskeletal-System
|
MSK
|
[
"improved exercise tolerance",
"Previously confined to a wheel chair, he started to walk independently and actively"
] |
test-209
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"Ophthalmologic and audiologic exams were normal."
] |
test-210
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Dermatology
|
DERM
|
[] |
test-211
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-212
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-213
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"The patient presented at age seven years"
] |
test-214
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-215
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"complex III deficiency"
] |
test-216
|
4750615
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted for evaluation, which revealed low serum glucose of 3.05 mmol/L (55 mg/dL) and very low plasma l -carnitine (total carnitine:7 μmol/L, reference range: 25–69). Serum creatine phosphokinase (CK) and transaminases were elevated and continued to increase as he clinically deteriorated, with CK peaking at 202 μkat/L (12,086 U/L), AST at 341 U/L and ALT at 190 U/L. Ophthalmologic and audiologic exams were normal. Differential diagnoses included fatty acid oxidation defects, GSDs, and mitochondrial oxidative phosphorylation disorders. The patient had started on carnitine and cornstarch but continued to deteriorate, with multiple admissions for ketotic hypoglycemia and severe lactic acidosis. Brain magnetic resonance imaging was normal, while brain magnetic resonance spectroscopy (MRS) showed lactate peaks in the left basal ganglion and lateral ventricle. As this finding was suggestive of a mitochondrial disorder, treatment with coenzyme Q10, riboflavin, creatine monohydrate, alpha-lipoic acid, and medium chain triglyceride (MCT) oil was initiated, while continuing carnitine supplementation. Leucovorin was later added due to a low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate level. At age eight, he required a gastric feeding tube (G-tube) placement for malnutrition and continued weight loss. The urine organic acid profile was notable for elevations of lactate, ethylmalonate, 3-methylglutaconate, and branched-chain ketoacids, suggestive of mitochondrial dysfunction. Cultured skin fibroblast testing was performed for suspected defects in fatty acid oxidation, pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase complex (EC 1.2.4.1, EC 2.3.1.12, EC 1.8.1.4) with normal results . Analysis of acylcarnitines in cultured skin fibroblasts incubated with palmitic acid and l -carnitine (in vitro probe assay) showed marked elevations of long-chain species, suggestive of carnitine palmitoyltransferase II or carnitine–acylcarnitine translocase deficiency. CSF analysis showed mild elevation of lactate of 3.1 mmol/L (< 2.8), and a low normal level of 5-methyltetrahydrofolate. Transaminitis was initially attributed to a possible GSD; glycogen content was elevated in both liver (10%; control range 3.3 +/− 1.7%) and muscle (3.0%; control range 0.94 +/− 0.55). However, sequencing of PHKA1 and PHKG2 genes (GSD IX) and AGL gene (GSD III) was normal. Activities of debranching enzyme (EC 2.4.1.25 GSD III) and hepatic phosphorylase kinase (GSD IX, EC 2.7.11.19) in the liver and muscle, and glucose-6-phosphatase (GSD Ia, EC 3.1.3.9) in the liver were also normal. Further evaluation for a suspected mitochondrial disorder revealed normal electron transporter chain (ETC) activity in cultured skin fibroblasts. Muscle histopathology demonstrated prominent granular red staining of the fibers with a trichrome stain and numerous mitochondria aggregates by electron microscopy, characteristic of a mitochondrial myopathy ( Fig. 1 ). ETC testing on frozen muscle revealed deficient complex III activity of 455 (mean 1461, standard deviation 473); mtDNA sequencing of the muscle sample revealed a 9 basepair deletion with loss of 3 amino acids Leu-Ala-Thr (m.15319_15327delCCTAGCAAC; p.Leu192_Thr194del, Fig. 2 ) in the MT-CYB gene encoding cytochrome b subunit of complex III, with > 90% mutant load, confirming complex III deficiency. MtDNA sequencing in the liver and blood did not reveal the mutation, although low heteroplasmy for the mutation was detected in uncultured skin fibroblasts. Since the diagnosis, ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal. The child dramatically improved with the start of G-tube feeding and dietary supplements, with increased energy level, improved exercise tolerance and progress in academic performance. Previously confined to a wheel chair, he started to walk independently and actively. Lactic acid, transaminases and CK levels have stabilized, although lactate showed occasional elevations as high as 11 mmol/L without symptoms of metabolic decompensation. His G-tube was removed at age 12 years and he stopped taking supplements, and he continues to do remarkably well physically.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"coenzyme Q10 , riboflavin , creatine monohydrate , alpha - lipoic acid , and medium chain triglyceride ( MCT ) oil was initiated , while continuing carnitine supplementation . Leucovorin was later added"
] |
test-217
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"height 182 cm, weight 80 kg"
] |
test-218
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-219
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Patient-History
|
History
|
[
"with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y.",
"The family history was positive for diabetes ( grandmother from the mother ’s side ) and cardiac abnormalities ( mother )",
"admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles",
"A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency.",
"He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y."
] |
test-220
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Neurology
|
Neuro
|
[
"bilateral ptosis since age 23y,",
"ophthalmoparesis since at least age 27y,",
"Electroneurography at age 27y revealed axonal polyneuropathy",
"electroencephalography generalized poly - spike waves in the absence of seizures",
"bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes",
"Cerebrospinal fluid ( CSF ) investigations at age 40y revealed elevated protein ( 1008mg / l, n : 150 - 450mg / l ) exclusively",
"Needle-(electromyography ) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations.",
"mild weakness of the lower limbs ( M5-/M4 + )",
"Upon supra - maximal stimulation of the phrenic nerve at age 41y no answer could be evoked",
"needle - EMG of the rectus abdominis muscle revealed abnormal spontaneous activity",
"was awake with normal oxygenation",
"ptosis, ophthalmoparesis, weak head anteflexion and retroflexion ( M5- ), weakness of the upper limbs with distal predominance ( M4 to M5- ), proximal weakness of the lower limbs ( M5- ) absent tendon reflexes, generalized wasting, and stocking - type sensory disturbances",
"Cerebral CT was normal.",
"ophthalmoparesis since age 6y, ptosis since age 23y",
"mitochondrial neuropathy, abnormal EEG, and elevated CSF - protein"
] |
test-221
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets",
"Cerebrospinal fluid ( CSF ) investigations at age 40y revealed elevated protein ( 1008mg / l, n : 150 - 450mg / l ) exclusively",
"Transthoracic echocardiography at age 40y revealed mild myocardial thickening",
"Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm",
"Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol / l after 8 minutes",
"Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged - red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX - negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH - CoQ - oxidoreductase was 7.4 U / g NCP ( n, 15.8 - 42.84 U / g NCP ) and the activity of the cytochrome - c - oxidase 89 U / g NCP ( n, 112 - 351 U / g NCP ). Investigation for mtDNA deletions or insertions by long - range PCR was normal.",
"Blood tests revealed hyponatriemia ( 129mmol / l, n : 135 - 150mmol / l ) and slight anemia",
"Cerebral CT was normal.",
"Blood gases normalized",
"elevated CSF - protein",
"Biochemical investigations revealed a combined complex I+IV defect"
] |
test-222
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Cardiovascular-System
|
CVS
|
[
"syncope at age 30y",
"24h - ECG at age 30y disclosed an intermittent AV - block II",
"Transthoracic echocardiography at age 40y revealed mild myocardial thickening",
"no indication for heart failure"
] |
test-223
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Endocrinology
|
ENDO
|
[] |
test-224
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Genitourinary-System
|
GU
|
[] |
test-225
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Respiratory-System
|
RESP
|
[
"abnormal respiratory pattern",
"Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm",
"acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles",
"hypercapnia due to muscular respiratory insufficiency",
"The diaphragm was moving normally.",
"respiratory insufficiency with hypercapnia recurred",
"Under this regimen respiratory function further improved",
"hypercapnia due to muscular respiratory insufficiency",
"Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra - ocular and the axial muscles but also the shoulder girdle and respiratory muscles.",
"muscular respiratory insufficiency"
] |
test-226
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Musculoskeletal-System
|
MSK
|
[
"bilateral ptosis since age 23y,",
"anterocollis since at least age 40y.",
"bilateral proximal weakness of the upper limbs, a winging scapula bilaterally",
"Needle-(electromyography ) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations",
"mild weakness of the lower limbs ( M5-/M4 + )",
"needle - EMG of the rectus abdominis muscle revealed abnormal spontaneous activity",
"acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles",
"hypercapnia due to muscular respiratory insufficiency.",
"ptosis, ophthalmoparesis, weak head anteflexion and retroflexion ( M5- ), weakness of the upper limbs with distal predominance ( M4 to M5- ), proximal weakness of the lower limbs ( M5- )",
"generalized wasting,",
"The diaphragm was moving normally.",
"respiratory insufficiency with hypercapnia recurred",
"he was able to sit with support during daytime",
"Unsupported sitting was impossible due to affected truncal muscles.",
"muscular respiratory insufficiency.",
"ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y.",
"mitochondrial myopathy affecting not only the extra - ocular and the axial muscles but also the shoulder girdle and respiratory muscles",
"muscular respiratory insufficiency"
] |
test-227
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"divergence of the ocular bulbs with double vision since age 6y",
"bilateral ptosis since age 23y,",
"ophthalmoparesis since at least age 27y",
"ptosis, ophthalmoparesis,",
"ophthalmoparesis since age 6y, ptosis since age 23y,"
] |
test-228
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Dermatology
|
DERM
|
[] |
test-229
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-230
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-231
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"45y",
"45y"
] |
test-232
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age 6y"
] |
test-233
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-234
|
5301300
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y. At age 27y he had undergone muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets. Electroneurography at age 27y revealed axonal polyneuropathy. 24h-ECG at age 30y disclosed an intermittent AV-block II and electroencephalography generalized poly-spike waves in the absence of seizures. Clinical neurologic investigation at age 40y revealed, in addition to the above mentioned abnormalities, bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, and reduced tendon reflexes. Cerebrospinal fluid (CSF) investigations at age 40y revealed elevated protein (1008mg/l, n: 150-450mg/l) exclusively. Needle-(electromyography) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations. A Guillain-Barre-syndrome (GBS) was suspected and immunoglobulins administered with a beneficial effect. Transthoracic echocardiography at age 40y revealed mild myocardial thickening. At late age 40y mild weakness of the lower limbs (M5-/M4+) and an abnormal respiratory pattern were noted for the first time. Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm. Lactate stress testing under 40W resulted in a lactate increase to 9.5mmol/l after 8 minutes. Upon supra-maximal stimulation of the phrenic nerve at age 41y no answer could be evoked and needle-EMG of the rectus abdominis muscle revealed abnormal spontaneous activity. Muscle biopsy from the right deltoid muscle at age 41y showed myopathic features, ragged-red fibers, regenerating fibers, increased number of lipid droplets, glycogen depositions, and some COX-negative fibers. Biochemical investigations of the muscle homogenate revealed a combined complex I+IV defect. The activity of the NADH-CoQ-oxidoreductase was 7.4 U/g NCP (n, 15.8-42.84 U/g NCP) and the activity of the cytochrome-c-oxidase 89 U/g NCP (n, 112-351 U/g NCP). Investigation for mtDNA deletions or insertions by long-range PCR was normal. Southern blot could not be carried out because of insufficient material. nDNA located genes responsible for mitochondrial myopathy were not tested. The family history was positive for diabetes (grandmother from the mother’s side) and cardiac abnormalities (mother). At age 45y he was admitted for acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles (Table 2 ). There was no indication for heart failure. Though he was awake with normal oxygenation, he required intubation and mechanical ventilation because of hypercapnia due to muscular respiratory insufficiency. Clinical neurologic examination revealed ptosis, ophthalmoparesis, weak head anteflexion and retroflexion (M5-), weakness of the upper limbs with distal predominance (M4 to M5-), proximal weakness of the lower limbs (M5-) absent tendon reflexes, generalized wasting, and stocking-type sensory disturbances. Blood tests revealed hyponatriemia (129mmol/l, n: 135-150mmol/l) and slight anemia (Table 1 ). The diaphragm was moving normally. Cerebral CT was normal. Under controlled ventilation elevated CO 2 decreased to near normal values within 3 days (Table 2 ). On hospital day (hd) 3 he was extubated but respiratory insufficiency with hypercapnia recurred, why he required re-intubation and ventilatory support on hd5 (Table 2 ). One day after re-intubation, tracheostomy was carried out. Blood gases normalized (Table 2 ) and from hd8 ventilatory support could be discontinued during daytime. Since a GBS was additionally suspected upon the history and the elevated CSF-protein, immunoglobulins were given. Under this regimen respiratory function further improved and he was able to sit with support during daytime. Unsupported sitting was impossible due to affected truncal muscles.', 'Case Report:': 'A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-235
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-236
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-237
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Patient-History
|
History
|
[
"A 52 - year - old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence",
"He has never smoked tobacco or taken alcohol",
"His parents were first cousins from the Hausa ethnic group. His 78 - year - old father is alive and well. His 70 - year - old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years.",
"His mother and 42 - year - old brother both had visual impairment, ataxia, and sensory loss on examination"
] |
test-238
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Neurology
|
Neuro
|
[
"patient was oriented and scored 28/30 on the Mini - Mental State Examination Scale",
"dysarthria and slow saccades on eye movement",
"global hyperreflexia, bilateral ankle clonus, and extensor plantar responses",
"Muscle power was 5/5 in all limbs",
"glove - and - stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia",
"brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres,"
] |
test-239
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal",
"brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres",
"Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 ( ATXN7 ) gene locus, where one normal allele and one fully expanded allele ( 10/39 ) were observed. '"
] |
test-240
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-241
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Endocrinology
|
ENDO
|
[] |
test-242
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Genitourinary-System
|
GU
|
[] |
test-243
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Respiratory-System
|
RESP
|
[] |
test-244
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Musculoskeletal-System
|
MSK
|
[
"Muscle power was 5/5 in all limbs."
] |
test-245
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy"
] |
test-246
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Dermatology
|
DERM
|
[] |
test-247
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-248
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-249
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"52 - year - old"
] |
test-250
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-251
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"SCA7"
] |
test-252
|
5402823
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father is alive and well. His 70-year-old mother developed unsteady gait and dysphagia at age 55 years and is now bedridden and blind. His maternal aunt had died of a similar illness at age 39 years. Of his 12 siblings, all four sisters are alive and well, but five of eight brothers died. Three brothers died of unrelated causes, but one died at age 19 years following speech and swallowing difficulties while another one developed frequent falls, dementia, and blindness at age 27 years and died at 45 years. One brother is apparently healthy at age 54 years, but two others aged 42 and 43 years both suffer progressive imbalance of gait. The patient is married to one wife and has had seven children, of whom three have died. One son had frequent falls, seizures, abnormal speech, and blindness at age 8 years and died 3 years later. A daughter died of neonatal sepsis, while another daughter had unsteady gait and speech and swallowing difficulties at 2 years and died at 6 years. On examination, the patient was oriented and scored 28/30 on the Mini-Mental State Examination Scale. He had dysarthria and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy. He had global hyperreflexia, bilateral ankle clonus, and extensor plantar responses. Muscle power was 5/5 in all limbs. He had a glove-and-stocking sensory loss and bilateral cerebellar signs and scored 16/40 on the Scale for the Assessment and Rating of Ataxia. His mother and 42-year-old brother both had visual impairment, ataxia, and sensory loss on examination. Investigations performed on the patient including a full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal. We suspected a mitochondrial encephalopathy to keep in view SCA7 and von-Hippel–Lindau syndrome. When brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres, we diagnosed SCA7 and tested for CAG repeat expansions at the SCA1, 2, 3, 6, and 7 loci on the proband, his mother and his 42-year-old brother. DNA was extracted from peripheral blood and analyzed by polymerase chain reaction and capillary electrophoresis at the Molecular Diagnostics Laboratory of the National Health Laboratory Service in Cape Town, South Africa. Each of the three samples tested showed expansion mutations of 39 repeats at the SCA7 (ATXN7) gene locus, where one normal allele and one fully expanded allele (10/39) were observed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-253
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-254
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Gastrointestinal-System
|
GI
|
[
"nausea,"
] |
test-255
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Patient-History
|
History
|
[
"A 48 - year - old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.",
"Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years",
"moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity.",
"On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic – clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night.",
"A detailed 3 - generation family history revealed no known neurologic, muscular, cardiac, or vision problems"
] |
test-256
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Neurology
|
Neuro
|
[
"presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.",
"her symptoms initially stabilized, but in the following week, the patient 's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity",
"She then suffered 2 generalized tonic – clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe.",
"her cognition including language and activities of daily living had greatly improved."
] |
test-257
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Computed tomography ( CT ) revealed a hypodense lesion within the left temporal lobe ( edema ) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging ( MRI ) demonstrated left temporal lobe diffusion signal abnormality and fluid - attenuated inversion recovery ( FLAIR ) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient ( ADC ) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 )",
"Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography ( PET ) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol / L. Serum lactate was elevated to 4.6 mmol / L. Serum inflammatory markers ( dsDNA, anti - Hu, anti - Ri, anti - Yo, SS - A, SS - B, C3, C4 ) were normal.",
"Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain",
"Genetic testing of patient 's serum confirmed m.3243 A→G mutation ( heteroplasmy 22 % ) in the MT - TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome"
] |
test-258
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Cardiovascular-System
|
CVS
|
[
"essential hypertension"
] |
test-259
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Endocrinology
|
ENDO
|
[
"poorly controlled type 2 diabetes mellitus"
] |
test-260
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Genitourinary-System
|
GU
|
[] |
test-261
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Respiratory-System
|
RESP
|
[] |
test-262
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Musculoskeletal-System
|
MSK
|
[] |
test-263
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"dizziness",
"bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years",
"blurred vision,"
] |
test-264
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Dermatology
|
DERM
|
[] |
test-265
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Pregnancy
|
Pregnancy
|
[] |
test-266
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Lymphatic-System
|
LYMPH
|
[] |
test-267
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"48 - year - old"
] |
test-268
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-269
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"MELAS syndrome"
] |
test-270
|
5128397
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2 diabetes mellitus, and bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years. Computed tomography (CT) revealed a hypodense lesion within the left temporal lobe (edema) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging (MRI) demonstrated left temporal lobe diffusion signal abnormality and fluid-attenuated inversion recovery (FLAIR) hyperintensity predominantly involving the cortex, with cortical and leptomeningeal contrast enhancement. The apparent diffusion coefficient (ADC) map showed preserved, isointense signal in the temporal cortex ( Fig. 2 ). The ventricular system and remaining parenchyma were grossly normal. Normal patent vessels without stenosis were seen on MR angiogram ( Fig. 3 ). Clinically, her symptoms initially stabilized, but in the following week, the patient's confusion worsened, and she developed clumsiness and stiffness of her right arm. At that point, she was referred to our institution for further evaluation. On admission, she had moderate expressive aphasia, mild dysarthria, and apraxia with paratonia of her right upper extremity. Imaging showed partial resolution of the left temporal lobe lesion, and new cortical diffusion weighted imaging abnormality in the left temporal and occipital lobes with corresponding FLAIR hyperintensity ( Fig. 2 ). Normal ADC signal and postcontrast leptomeningeal enhancement were similarly seen in these regions. Positron emission tomography (PET) showed no evidence of malignancy but demonstrated reduced metabolic activity in the regions of signal abnormality with adjacent metabolic hyperactivity involving the left superior parietal and medial occipital lobes in a gyriform distribution. Lumbar puncture ruled out infection but was significant for elevated lactate to 5.1 mmol/L. Serum lactate was elevated to 4.6 mmol/L. Serum inflammatory markers (dsDNA, anti-Hu, anti-Ri, anti-Yo, SS-A, SS-B, C3, C4) were normal. On day 4 of hospitalization, the patient reported feeling better, and her family took her home against medical advice. She then suffered 2 generalized tonic–clonic seizures associated with severe headache and blurred vision, and she was readmitted to our institution the same night. Continuous electroencephalogram showed left hemispheric slowing and frequent seizures originating from the left occipital lobe. Subsequent MRI demonstrated extension of the occipital lesion to involve more of the parietal and occipital lobes ( Fig. 4 ). MR spectroscopy showed elevated lactate peak at 1.3 ppm diffusely throughout the brain ( Fig. 5 ). A clinical diagnosis of MELAS syndrome was made. The patient recovered without further complications on anticonvulsants and high-dose intravenous arginine then oral citrulline at 0.5 mg/kg. At 2-month follow-up, her cognition including language and activities of daily living had greatly improved. Genetic testing of patient's serum confirmed m.3243 A→G mutation (heteroplasmy 22%) in the MT-TL1 gene that encodes leucine transfer RNA, consistent with MELAS syndrome. A detailed 3-generation family history revealed no known neurologic, muscular, cardiac, or vision problems. Genetic counseling is ongoing."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"high - dose intravenous arginine then oral citrulline at 0.5 mg / kg"
] |
test-271
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-272
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Gastrointestinal-System
|
GI
|
[
"vomiting"
] |
test-273
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Patient-History
|
History
|
[
"The patient was a 41 - year - old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age",
"He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure.",
"His family history was not remarkable",
"He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age",
"Three months later, he was admitted to our hospital due to impaired consciousness and vomiting",
"his family had no clinical symptoms suggestive of mitochondrial diseases",
"Over a two - month period, he experienced two stroke - like episodes with simple partial seizure and vomiting. Each time the stroke - like episodes ended within four days"
] |
test-274
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Neurology
|
Neuro
|
[
"generalized convulsions, insomnia, and depression",
"ischemic stroke at 33 years of age",
"epileptic seizure with epileptic encephalopathy at 37 years of age.",
"myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age.",
"impaired consciousness",
"gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities",
"no ophthalmoplegia, hearing loss, or muscle weakness",
"His mini - mental status examination score was 15/30, and his frontal assessment battery score was 5/18",
"The cerebrospinal fluid lactate ( 34.8 mg / dL ) and pyruvic acid ( 1.6 mg / dL ) levels were elevated.",
"Brain magnetic resonance imaging ( MRI ) showed bilateral cortical and subcortical high - intensity lesions on T2 - weighted imaging ( T2WI ) and fluid attenuated inversion recovery ( FLAIR ), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion - weighted imaging ( DWI ) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient ( ADC ) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H - MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ).",
"99 m Tc - Ethylcysteinate dimer single photon emission computed tomography ( SPECT ) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions",
"two stroke - like episodes with simple partial seizure and vomiting",
"Each time the stroke - like episodes ended within four days",
"epileptic seizure",
"His higher brain dysfunction and myoclonus worsened with each stroke - like episode"
] |
test-275
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels ( 1.2 mg / dL ), but his serum lactate levels were normal ( 14.2 mg / dL ). The cerebrospinal fluid lactate ( 34.8 mg / dL ) and pyruvic acid ( 1.6 mg / dL ) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging ( MRI ) showed bilateral cortical and subcortical high - intensity lesions on T2 - weighted imaging ( T2WI ) and fluid attenuated inversion recovery ( FLAIR ), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion - weighted imaging ( DWI ) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient ( ADC ) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H - MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99 m Tc - Ethylcysteinate dimer single photon emission computed tomography ( SPECT ) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions",
"histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non - specific change. No necrotic or regenerating fibers were seen. On modified Gomori - trichrome stain, ragged red fibers ( RRFs ) were not observed. Succinate dehydrogenase ( SDH ) stain revealed no strongly SDH - reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T > C mutation, with a level of mutant heteroplasmy of 69.5 %, in the mitochondrial complex I subunit gene, MT - ND3"
] |
test-276
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-277
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Endocrinology
|
ENDO
|
[] |
test-278
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Genitourinary-System
|
GU
|
[] |
test-279
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Respiratory-System
|
RESP
|
[] |
test-280
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-281
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"gaze nystagmus",
"no ophthalmoplegia, hearing loss"
] |
test-282
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Dermatology
|
DERM
|
[] |
test-283
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-284
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-285
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"41 - year - old"
] |
test-286
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"20 years of age"
] |
test-287
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"MELAS - like encephalopathy"
] |
test-288
|
5313432
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondrial disorder, such as short stature, diabetes mellitus, deafness or heart failure. His family history was not remarkable. He developed myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age. Three months later, he was admitted to our hospital due to impaired consciousness and vomiting. A neurological examination showed gaze nystagmus, cerebellar ataxia, and myoclonic movement in his distal extremities. However, no ophthalmoplegia, hearing loss, or muscle weakness were detected. His mini-mental status examination score was 15/30, and his frontal assessment battery score was 5/18. The findings from routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels (1.2 mg/dL), but his serum lactate levels were normal (14.2 mg/dL). The cerebrospinal fluid lactate (34.8 mg/dL) and pyruvic acid (1.6 mg/dL) levels were elevated. Electrocardiogram and echocardiogram were normal. Brain magnetic resonance imaging (MRI) showed bilateral cortical and subcortical high-intensity lesions on T2-weighted imaging (T2WI) and fluid attenuated inversion recovery (FLAIR), distributed bilaterally and almost symmetrically. Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved ( Fig. 1A and C ). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) ( Fig. 1B ). These lesions appeared as high or iso signal intensity on the apparent diffusion coefficient (ADC) map. Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished ( Fig. 2 ). 1 H-MRS revealed elevated lactate concentrations in the lesions ( Fig. 1D ). 99m Tc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions ( Fig. 1E ). We suspected mitochondrial encephalopathy, such as MELAS. A histopathological study of the biopsied right biceps branchii muscle revealed mild variation in the fiber size, measuring from 30 to 90 microns in diameter, which was thought to be a non-specific change. No necrotic or regenerating fibers were seen. On modified Gomori-trichrome stain, ragged red fibers (RRFs) were not observed. Succinate dehydrogenase (SDH) stain revealed no strongly SDH-reactive blood vessels. Cytochrome c oxidase staining revealed no abnormalities ( Fig. 1F ). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 ( Fig. 1G ). Because his family had no clinical symptoms suggestive of mitochondrial diseases, we could not conduct a complete mtDNA sequence analysis of his family. Over a two-month period, he experienced two stroke-like episodes with simple partial seizure and vomiting. Each time the stroke-like episodes ended within four days with drip infusion of edaravone and supportive care. To control epileptic seizure, we added levetiracetam (1,000 mg/day) to zonisamide (400 mg/day) and carbamazepine (400 mg/day). Because he had not yet been diagnosed with MELAS-like encephalopathy at that time, we did not administer L-arginine. His higher brain dysfunction and myoclonus worsened with each stroke-like episode.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-289
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"157 cm in height and 45 kg in weight",
"normal body temperature of 36.8 ° C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute."
] |
test-290
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Gastrointestinal-System
|
GI
|
[] |
test-291
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Patient-History
|
History
|
[
"The patient was a 37 - year - old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic - clonic seizures.",
"She had a long history of episodic migraine - like headaches and progressive bilateral hearing loss for 3 years."
] |
test-292
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Neurology
|
Neuro
|
[
"psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic - clonic seizures. She had a long history of episodic migraine - like headaches",
"An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities."
] |
test-293
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid - stimulating hormone ( TSH ) and free thyroxine ( FT4 ) were decreased. Her TSH level was low at 0.26 mU / L ( normal range 0.35–5.5 mU / L ), and FT4 concentration was 7.56 pmol / L ( normal range 10.2–31 pmol / L ). Both serum free and total triiodothyronine ( FT3 and TT3 ) were significantly lower than normal range. FT3 concentration was 2.28 pmol / L ( normal range 3.5–6.5 pmol / L ), and TT3 concentration was 0.6 nmol / L ( normal range 1.2–3.4 nmol / L ). Moreover, elevated titers of serum anti - thyroglobulin and anti - thyroid microsomal antibodies were detected. Cerebral spinal fluid ( CSF ) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 ( normal range ≤ 0.7 ), and oligoclonal bands ( OB ) was negative. Computed tomography ( CT ) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A ). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B ). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI ( 3.0 T ) revealed a hypointensity lesion in the left temporal - parietal lobe on T1 weighted image ( Fig. 2 A ), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B ) with a clearly restricted diffusion ( Fig. 2 C ). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D ). No obvious enhancement was found on Gd - DTPA enhanced images ( Fig. 2 E ). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F ), there was a significantly elevated lactate peak at 1.3 ppm in region of interest ( ROI ) with decreased NAA spectrum and reduced NAA / Cr ratio ( Fig. 2 G ). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe ( Panel A ). Three - dimensional reconstruction of CT vessel images ( Panel B ). Fig. 1 Fig. 2 Brain MRI ( 3.0 T ) revealed a hypointense lesion in the left temporal and parietal lobe on T1 ( Panel A ), and increased signal intensity in the same region on Flair ( Panel A ) image with a clearly restricted diffusion ( Panel C ). The signal intensity on ADC sequence is mildly reduced ( Panel D ). No obvious enhancement was found on Gd - DTPA enhanced images ( Panel E ). Compared to the ipsilateral normally appearing area ( Panel F ), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest ( ROI )",
"mitochondrial DNA ( mtDNA ) mutation at A3242 G point"
] |
test-294
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Cardiovascular-System
|
CVS
|
[] |
test-295
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Endocrinology
|
ENDO
|
[] |
test-296
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Genitourinary-System
|
GU
|
[] |
test-297
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Respiratory-System
|
RESP
|
[] |
test-298
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Musculoskeletal-System
|
MSK
|
[] |
test-299
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"progressive bilateral hearing loss",
"Brainstem auditory evoked potential ( BAEP ) showed the bilateral sensorineural hearing loss."
] |
test-300
|
5721577
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic-clonic seizures. She had a long history of episodic migraine-like headaches and progressive bilateral hearing loss for 3 years. However, she did not take any medication. Her vital signs showed a normal body temperature of 36.8 °C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute. Because of the patient's psychiatric symptoms and application of sedative after seizure attacks, she could not cooperate with physical examination. The laboratory data showed high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were decreased. Her TSH level was low at 0.26 mU/L (normal range 0.35–5.5 mU/L), and FT4 concentration was 7.56 pmol/L (normal range 10.2–31 pmol/L). Both serum free and total triiodothyronine (FT3 and TT3) were significantly lower than normal range. FT3 concentration was 2.28 pmol/L (normal range 3.5–6.5 pmol/L), and TT3 concentration was 0.6 nmol/L (normal range 1.2–3.4 nmol/L). Moreover, elevated titers of serum anti-thyroglobulin and anti-thyroid microsomal antibodies were detected. Cerebral spinal fluid (CSF) studies were normal for cell counts and biochemistry, and negative for culture. CSF IgG index was 0.48 (normal range ≤ 0.7), and oligoclonal bands (OB) was negative. Computed tomography (CT) scan showed lesions of hypodense in the left temporal and parietal lobe, with brainstem and cerebellar atrophy ( Fig. 1 A). No evidence of subarachnoid or intracerebral hemorrhage. Vascular imaging of the cervical and cerebral arteries by CT angiography excluded the possibility of cerebrovascular disease ( Fig. 1 B). However, CT images were not conclusive to differentiate between the infectious or metabolic lesion. On day 5, brain magnetic resonance imaging MRI (3.0 T) revealed a hypointensity lesion in the left temporal-parietal lobe on T1 weighted image ( Fig. 2 A), and increased signal intensity in the same region on FLAIR sequences ( Fig. 2 B) with a clearly restricted diffusion ( Fig. 2 C). The signal intensity on ADC sequence was mildly reduced ( Fig. 2 D). No obvious enhancement was found on Gd-DTPA enhanced images ( Fig. 2 E). MR spectroscopy was carried out as well. Compared to the ipsilateral normally appearing area ( Fig. 2 F), there was a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) with decreased NAA spectrum and reduced NAA/Cr ratio ( Fig. 2 G). The change of the spectrum reflected the severity of metabolic disorders, suggesting the local accumulation of lactic acid and disturbance of hypoxic processes. Fig. 1 CT scan showed lesions of hypodense in the left temporal and parietal lobe (Panel A). Three-dimensional reconstruction of CT vessel images (Panel B). Fig. 1 Fig. 2 Brain MRI (3.0 T) revealed a hypointense lesion in the left temporal and parietal lobe on T1 (Panel A), and increased signal intensity in the same region on Flair (Panel A) image with a clearly restricted diffusion (Panel C). The signal intensity on ADC sequence is mildly reduced (Panel D). No obvious enhancement was found on Gd-DTPA enhanced images (Panel E). Compared to the ipsilateral normally appearing area (Panel F), MR spectroscopy presented a significantly elevated lactate peak at 1.3 ppm in region of interest (ROI) (Panel G). Panels f and g are the molecular findings of metabolites respectively. Fig. 2 An electroencephalogram was performed on day 7 and displayed bilateral slow wave activities. Brainstem auditory evoked potential (BAEP) showed the bilateral sensorineural hearing loss. All the clinical and radiological findings were suggestive of mitochondrial disease. The final diagnosis of MELAS syndrome was confirmed by genetic analysis. The patient's peripheral blood leukocytes was detected by restriction fragment length polymorphism (RFLP) and revealed a mitochondrial DNA (mtDNA) mutation at A3242G point ( Fig. 3 ). Fig. 3 Mitochondrial DNA (mtDNA) mutation at A3242G point. Fig. 3 Her medications included L-arginine, phenobarbital, co-enzyme Q and levothyroxine substitution therapy. The patient's condition continuously improved, and was discharged on day 23. Six months following discharge, this patient had no further seizure."}
|
Dermatology
|
DERM
|
[] |
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