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3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Gene analysis revealed CAH due to 21 - hydroxylase deficiency"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"administration of adrenal steroids . After 6 months of treatment with dexamethasone ( 0.25 mg daily ) , bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig . 2C , D ) . 17 - OHP and ACTH levels were normalized to 118 ng / dL and 20.8 pg / mL , respectively , and impotence was improved ."
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"normal complete hemogram ( including hemoglobin, total leukocyte count, differential leukocyte count ),"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Gastrointestinal-System
|
GI
|
[
"recurrent episodes of diarrhea"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Patient-History
|
History
|
[
"The second case was of a 28 - year - old male who was born of a non - consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability.",
"A 50 - year - old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non - consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations."
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Neurology
|
Neuro
|
[
"delayed psychomotor milestones with mental retardation",
"progressive spastic diplegia, tremulousness in both upper limbs and scanning speech.",
"impaired attention, vigilance, comprehension, and new learning ability.",
"Pan - sensory impairment was noted below knee with impaired limb coordination in upper limbs",
"MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids",
"progressive spastic diplegia for 20 years",
"gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure.",
"unremarkable early psychomotor development.",
"impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination",
"MRI brain showed T2 - weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Patient 's skin biopsy of swelling over Achilles confirmed xanthoma",
"MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids",
"Blood investigations revealed a normal complete hemogram ( including hemoglobin, total leukocyte count, differential leukocyte count ), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels.",
"X - rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2 - weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy",
"Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis",
"The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position ( c. 1151C > Tp. P384L ) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene ( c. 2 T > Cp. M1 T )"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Cardiovascular-System
|
CVS
|
[] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Endocrinology
|
ENDO
|
[] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Genitourinary-System
|
GU
|
[
"gradually progressive bladder dysfunction"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Respiratory-System
|
RESP
|
[] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Musculoskeletal-System
|
MSK
|
[
"thoracic kyphosis with contractures at hip, knee, and ankle joints"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"congenital cataract,"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Dermatology
|
DERM
|
[
"skin biopsy of swelling over Achilles confirmed xanthoma.",
"firm, non - tender swellings over ankles, patella, and elbows bilaterally",
"homogenous soft tissue swelling."
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Pregnancy
|
Pregnancy
|
[] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"28 - year - old",
"50 - year - old"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"since early childhood"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CTX"
] |
3808070
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs. Patient's skin biopsy of swelling over Achilles confirmed xanthoma. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.", 'Case 1': 'A 50-year-old commerce graduate with degree in law presented to us with insidious onset gradually progressive spastic diplegia for 20 years followed later by gradually progressive bladder dysfunction, poor scholastic performance, and a single seizure. He was born to non-consanguineous parents and had unremarkable early psychomotor development. Pedigree analysis revealed absence of any family history in previous two generations. On examination, patient had thoracic kyphosis with contractures at hip, knee, and ankle joints. He had firm, non-tender swellings over ankles, patella, and elbows bilaterally. Detailed higher mental function assessment revealed impairment of attention, new learning and visual memory with normal language functions. His speech was slow and slurred but could be comprehended with little difficulty. All cranial nerve functions were intact. The patient had severe spasticity in both lower limbs with brisk deep tendon reflexes in both the upper and the lower limbs, extensor plantar responses, and normal sensory examination. Blood investigations revealed a normal complete hemogram (including hemoglobin, total leukocyte count, differential leukocyte count), liver and kidney function tests, serum electrolytes and, triglyceride and cholesterol levels. X-rays of ankle, knee, and elbow showed homogenous soft tissue swelling. MRI brain showed T2-weighted hyperintensities in dentate nucleus regions bilaterally and generalized cerebral and cerebellar atrophy. Plasma cholestanol levels were found to be raised suggesting cerebrotendinous xanthomatosis. The genetic analysis of CYP27A1 gene of the patient was carried out by the method of Polymerase Chain Reaction and sequencing of both the DNA strands was done. The analysis revealed heterozygous mutation in exon 6 with substitution of cytosine by thymine at 1151 position (c. 1151C > Tp.P384L) and a novel mutation in exon 1 of CYP 27 gene with substitution of thymine by cytosine at nucleotide position 2 of the gene (c. 2T > Cp.M1T). The mutation in exon 6 is already described as disease causing while the mutation in exon 1 is previously unreported as per the current Human Gene Mutation Database. The mutation causes loss of a highly conserved start codon and likely results in loss of functional protein. The patient is receiving atorvastatin besides physical therapy and chenodeoxycholic acid (CDCA) is being arranged as it is not marketed in India.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"atorvastatin besides physical therapy and chenodeoxycholic acid ( CDCA ) is being arranged"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Gastrointestinal-System
|
GI
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Patient-History
|
History
|
[
"A 5 year - old boy was referred to the Pediatric Dentistry Clinic with the complaint of \" a small ball that appeared in the mouth \"",
"The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Neurology
|
Neuro
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino - enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Cardiovascular-System
|
CVS
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Endocrinology
|
ENDO
|
[
"hypophosphatemic vitamin D - resistant rickets"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Genitourinary-System
|
GU
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Respiratory-System
|
RESP
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature and several skeletal abnormalities"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"small ball that appeared in the mouth",
"fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma",
"complete primary dentition and none of the teeth examined showed evidence of caries"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Dermatology
|
DERM
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Pregnancy
|
Pregnancy
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"5 year - old"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"hypophosphatemic vitamin D - resistant rickets"
] |
3891287
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder. The medicines taken by the patient were calcitriol and phosphate supplements. He presented short stature and several skeletal abnormalities. Clinical examinations revealed fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma ( Figure 1 ). The patient presented complete primary dentition and none of the teeth examined showed evidence of caries ( Figure 2A-B ). Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino-enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge ( Figure 2C ). The patient presented a large physiologic wear of the incisors, geographic tongue and primary mandibular right lateral incisor (#82) and canine (#83) with crown alteration ( Figure 3A-B ). There were areas of rarefaction around the apices of the primary maxillary right and left central incisor (#51,61), primary maxillary right and left lateral incisor (#52,62), primary maxillary right and left canine (#53,63) and primary maxillary right and left first molar (#54,64), primary mandibular right and left central incisor (#81,71) ( Figure 4 and 5A-B ). Initially, two sections of management were performed. The treatment was divided into two phases: at first, the extraction of the teeth was performed: #51, 61, 81 and 71. At the second phase, endodontic treatment of the teeth: #52, 62, 53 and 63. These procedures were executed with local anesthesia and rubber dam isolation. The root canals were submitted to preparation with Kerr files and dressing with paramonoclorofenol (Biodinâmica LTDA, Brazil) for 48 hours. Canals were filled with zinc oxid-eugenol and iodoform paste and restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA). During the aforementioned treatment, primary mandibular right first molar (#84), primary maxillary right and left first molar (#54,64) and primary mandibular left second molar (#75) showed periapical fistula without evidence of caries or trauma in a short-term. These teeth were extracted. However, the child was constantly sick and did not attend the consultations. In the other teeth, the primary mandibular right second molar (#85), lateral incisor and canine (#82,83), primary maxillary right and left second molars (#55,65), primary mandibular left first molar and lateral incisor and canine (#74,73,72), the choice of treatment was to open the pulp chambers and make a dressing with formocresol (Biodinâmica LTDA, Brazil). After a 7-day period, the dressing with formocresol was removed and the root instrumentation was performed and filled with zinc oxid-eugenol and iodoform paste, afterwards the teeth were restored with resin glass ionomer cement (Vitremer, 3M/ESPE, USA) ( Figure 6 ). In order to maintain the space of primary maxillary right and left second molars and primary mandibular right second molar, a fixed space-maintainer was made and cemented with resin modified glass ionomer cement (Rely X, 3M/ESPE, USA) ( Figure 7A-B ). The postoperative clinic course was uneventful and after six months of follow-up, the child did not show clinical abscesses.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"calcitriol and phosphate supplements"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"gingival bleeding during brushing and eating, after the eruption of permanent teeth",
"gingiva, with excessive bleeding",
"bleeding on probing with deep periodontal pockets."
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Gastrointestinal-System
|
GI
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Patient-History
|
History
|
[
"The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected",
"Medical history was non - contributory",
"Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season",
"Case 2 ' : ' An 11 - year - old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present.",
"A 16 - year - old boy ( case 1 ) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis",
"The patient had one younger female sibling, 11 - year - old girl ( case 2 ) who also showed trait of PLS. \"",
"' A 16 - year - old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present."
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Neurology
|
Neuro
|
[
"steady gait",
"mental development was also normal"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “ floating - teeth ” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients",
"Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values",
"The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects. ' }"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Cardiovascular-System
|
CVS
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Endocrinology
|
ENDO
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Genitourinary-System
|
GU
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Respiratory-System
|
RESP
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"resorption of the alveolar ridge",
"deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient 's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.",
"mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present",
"severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “ floating - teeth †appearance",
"loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis.",
"permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal."
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Dermatology
|
DERM
|
[
"eruptions on the scalp, legs, feet, arms, and hands at birth",
"reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season",
"increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal",
"Patient had a reduced facial height due to resorption of the alveolar ridge"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Pregnancy
|
Pregnancy
|
[
"Mother had a full term normal uneventful pregnancy.",
"Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth,"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"11 - year - old",
"16 - year - old",
"16 - year - old"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"at birth",
"1 st year of life"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"PLS"
] |
3768190
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-contributory. Mother had a full term normal uneventful pregnancy. Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did not seek any treatment. Subsequently, there was reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season. Dermatological examination revealed increased keratinization of the skin of the palmar and plantar surfaces as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin. Deep fissures were present on the soles of feet. His nails and hair were normal. Patient had a reduced facial height due to resorption of the alveolar ridge. The past dental history revealed that the deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient's primary teeth were prematurely lost due to hypermobility. There had been normal eruption of all permanent teeth, but gradually the teeth had started becoming mobile and this was followed by exfoliation of the teeth and also described gingival bleeding during brushing and eating, after the eruption of permanent teeth.", 'Case 2': 'An 11-year-old girl, younger sibling, had mixed dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth with halitosis were present. The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “floating-teeth” appearance. On lateral cephalogram, there was no evidence of intracranial calcification in both patients. Laboratory investigation was carried out, which included hematological and biochemical assessment. Routine blood investigations and liver function tests were found to be within the normative range of values.', 'CASE REPORTS': "A 16-year-old boy (case 1) presented to the Department of Dentistry, DR. R. P. Government Medical College, Kangra at Tanda, Himachal Pradesh with the chief complaint of loose teeth and markedly inflamed gingiva, with excessive bleeding and severe halitosis. The patient was referred to our Department for general dental care by the Department of Dermatology where he had been diagnosed with PLS. An overview of the medical history revealed that, by the time the patient came to our department, he was following a therapeutic routine with oral administration of etretinate (Tegison, 10 mg three times daily for 4 weeks) for treatment of PLS dermatologic manifestations. Typical clinical signs of the disease were seen during the child's 1 st year of life. However, he had not sought any treatment until now. The patient had one younger female sibling, 11-year-old girl (case 2) who also showed trait of PLS.", 'Case 1': 'A 16-year-old boy had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting most of the teeth, with heavy deposits of plaque and calculus and halitosis were also present. The patient was found to be completely edentulous in the mandibular right quadrant. In the other quadrants, the permanent teeth that were missing were the right maxillary first molar, the right maxillary first premolar and second premolar, the lateral incisors, the central incisors, the left maxillary second premolar. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous. There was bleeding on probing with deep periodontal pockets. Gingival recession was present in all the teeth. The mucosa of the edentulous area appeared normal. The radiographic examination using panoramic film showed extensive bone loss and areas suggestive of vertical defects.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"height : 145 cm, weight : 46 Kg, body mass index ( BMI ): 21.8, Tanner staging : 1"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Gastrointestinal-System
|
GI
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Patient-History
|
History
|
[
"family 's concern about her ambiguous genitalia",
"surgery ( vaginoplasty ) when she was 3 years old",
"she had been admitted in hospital 2 times because of electrolytes imbalance",
"The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Neurology
|
Neuro
|
[
"good strength and excessive fatigue after exercise"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"karyotype was XX"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Cardiovascular-System
|
CVS
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Endocrinology
|
ENDO
|
[
"girl with male phenotype",
"voice deepening and short stature",
"Tanner staging : 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement",
"ambiguous genitalia",
"admitted in hospital 2 times because of electrolytes imbalance",
"excessive fatigue and vomiting due to electrolytes imbalance"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Genitourinary-System
|
GU
|
[
"girl with male phenotype",
", lack of menstrual period, clitoral enlargement,",
"ambiguous genitalia,"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Respiratory-System
|
RESP
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Musculoskeletal-System
|
MSK
|
[
"increased muscle bulk",
"short stature.",
"prolonged dysfunction due to her ankle sprain"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Dermatology
|
DERM
|
[
"hirsutism",
"dark skin"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Pregnancy
|
Pregnancy
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Lymphatic-System
|
LYMPH
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"14 - year old"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Congenital Adrenal Hyperplasia ( C.A.H ) due to 21 hydroxylase deficiency"
] |
3445650
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark skin, voice deepening and short stature. In her physical examination her specifications were as below: height: 145 cm, weight: 46 Kg, body mass index (BMI): 21.8, Tanner staging: 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement, good strength and excessive fatigue after exercise. In her past medical history, following her family's concern about her ambiguous genitalia, she underwent a number of specific laboratory tests and chromosomal karyotype and based on hormonal assessment the final diagnosis was Congenital Adrenal Hyperplasia (C.A.H) due to 21 hydroxylase deficiency. Afterwards, she had undergone surgery (vaginoplasty) when she was 3 years old and also she had been admitted in hospital 2 times because of electrolytes imbalance. In her drug history, she had been using 30 mg hydrocortisone daily in three divided doses (15.8 mg/m 2 ·d) plus 100 mg fludrocortisone daily in 2 divided doses, but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night. In her sports career, she used to be in First Division League of indoor soccer for 4 years and she was also selected in preparation training camp of women football team for Singapore's youth Olympic Games. She plays as a striker. She is a speedy player with a high level of technique. Despite her impressive role in the team, she usually cannot play more than one halftime because of excessive fatigue and vomiting due to electrolytes imbalance. As her karyotype was XX, based on the IOC (International Olympic Committee) rules, there was no limitation for her participation in international competitions of women. However, following consultations with the TUE (Therapeutic Use Exemption) Committee of games organization, she received TUE to use corticosteroid only within the games period. Now, mainly because of some problems in her medical conditions including prolonged dysfunction due to her ankle sprain, she is playing in the Second Division League of indoor soccer. Because of her irregular check-ups, there isn't much laboratory tests available. Her most recent one, requested by the team physician is shown in the Table 1 .", 'Case Presentation': "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"In her drug history , she had been using 30 mg hydrocortisone daily in three divided doses ( 15.8 mg / m 2 · d ) plus 100 mg fludrocortisone daily in 2 divided doses , but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"mild thrombocytopenia, a bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs )",
"thrombocytopenia"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Gastrointestinal-System
|
GI
|
[
"diarrhea, poor appetite"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Patient-History
|
History
|
[
"consultation concerning suspected Gaucher disease",
"partial resection of the right lung due to an aspergilloma"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Neurology
|
Neuro
|
[
"mild tremor"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"mutations of c.1226A > G ( N370S ) and RecNci I ( L444P, A456P, and V460V ) in the GBA1 gene",
"recurrent positivity for M. avium and A. fumigatus was detected",
"bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs ).",
"Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage ( BAL ) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis ( MOTT )",
"Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle ( EF of 50%–60 % ), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery ( PA ) of 42 mmHg.",
"Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome ( AIDS ).",
"Chest X - ray did not show any active pathological lesions. However, computed tomography imaging ( CT ) revealed pronounced fibrosis of lung parenchyma",
"absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase",
"direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene",
"CT of the chest disclosed a new infiltrate in the lower lobe of the right lung",
"recurrently positive for Mycobacterium avium in his sputum,",
"positive for Aspergillus fumigatus in sputum."
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Cardiovascular-System
|
CVS
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Endocrinology
|
ENDO
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Genitourinary-System
|
GU
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Respiratory-System
|
RESP
|
[
"recurrent pulmonary aspergillosis caused by Aspergillus fumigatus",
"chronic cough",
"mild pulmonary fibrosis and aspergillosis in the right lung",
"microbiological examination of secretions from a bronchoalveolar lavage ( BAL ) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis ( MOTT )",
"pulmonary bleeding",
"shortness of breath and cough.",
"Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT.",
"control spirometry showed only moderately decreased results ( VC 3.72 L, 82 %; FEV 1 3.04 L, 84 %; FEV 1 /SVC 82 %; FVC 3.72 L, 82 % ).",
"Chest X - ray did not show any active pathological lesions. However, computed tomography imaging ( CT ) revealed pronounced fibrosis of lung parenchyma",
"increased susceptibility to pulmonary infections,",
"lung involvement",
"cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus ( sensitive to voriconazole ) and Mycobacterium avium",
"pulmonary infections",
"after 10 days his cough decreased but, after some days, returned,",
"CT of the chest disclosed a new infiltrate in the lower lobe of the right lung",
"cough and night sweats were clearly reduced",
"recurrently positive for Mycobacterium avium in his sputum",
"positive for Aspergillus fumigatus in sputum."
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Musculoskeletal-System
|
MSK
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Dermatology
|
DERM
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Pregnancy
|
Pregnancy
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Lymphatic-System
|
LYMPH
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"65 - year - old"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"GD1",
"Gaucher disease"
] |
3916717
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. A 65-year-old man, originating from northern Greece but living in Sweden for over 30 years, had been referred to the Hematology Center Karolinska for a consultation concerning suspected Gaucher disease. His past medical history was significant for several co-morbidities ( Table I ). Because of splenomegaly (18 cm) and mild thrombocytopenia, a bone marrow (BM) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells (GCs). However, further investigations aimed at the confirmation of GD diagnosis were not performed at that time. At the age of 54 years, he developed malaise and a chronic cough. He was a smoker for 25 years but quit at the age of 50. Radiological examination disclosed mild pulmonary fibrosis and aspergillosis in the right lung. The microbiological examination of secretions from a bronchoalveolar lavage (BAL) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis (MOTT). Antifungal therapy with itraconazole (100 mg 2 × 2 p.o.) was administered for 6 weeks, but the MOTT infection was not treated. Of note, several weeks after therapy onset, the patient's clinical course was complicated by pulmonary bleeding (the coagulation work-up was normal apart from moderate thrombocytopenia). The fungal infection did not fully respond to therapy, and 2 years after diagnosis the patient underwent a partial resection of the right lung due to an aspergilloma ( Figure 1 ). After surgery, his general status improved rapidly. At age of 59, the patient developed shortness of breath and cough. Echocardiography showed septal left ventricular hypertrophy, normal systolic function of the left ventricle (EF of 50%–60%), signs of diastolic dysfunction, mild insufficiency of both aortic and pulmonary valves, and a slightly elevated pressure in the pulmonary artery (PA) of 42 mmHg. Repeated microbiological examination of the BAL secretions revealed a growth of Aspergillus fumigatus and Aspergillus nidulans, but was negative for MOTT. HIV serology was negative, excluding acquired immunodeficiency syndrome (AIDS). Voriconazole was administered for aspergillosis periodically for 2 years (at the age 61–62 years). Afterwards, the patient's symptoms regressed, and control spirometry showed only moderately decreased results (VC 3.72 L, 82%; FEV 1 3.04 L, 84%; FEV 1 /SVC 82%; FVC 3.72 L, 82%). Chest X-ray did not show any active pathological lesions. However, computed tomography imaging (CT) revealed pronounced fibrosis of lung parenchyma. At the time of hematologic consultation (at the age of 65), thrombocytopenia and hyperferritinemia were noted. The final diagnosis of GD1 was confirmed by the absence of glucocerebrosidase activity in peripheral blood leukocytes and an increased activity of plasma chitotriosidase. Further direct DNA sequencing of the GBA1 gene revealed heterozygous mutations in the GBA1 gene ( Table I ). The patient's status consisting of splenomegaly, thrombocytopenia, and an increased susceptibility to pulmonary infections, which was probably due to lung involvement in the course of GD, was assessed as an indication for commencing treatment of GD. The patient was started on miglustat, which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme® during 2009–2010 ( 9 ). He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally. Interestingly, the patient experienced an unusually rapid improvement of the whole blood platelet count (PLT), which normalized already after 2 months of miglustat therapy. Unfortunately, the patient developed malaise, diarrhea, poor appetite, weight loss (10 kg, 16% of his baseline body weight), and mild tremor for which miglustat was deemed accountable. During this time, the patient also developed cough, and a microbiological examination of the BAL secretions revealed growth of Aspergillus fumigatus (sensitive to voriconazole) and Mycobacterium avium . Inflammatory activation was observed at that time as presented in Table I . The patient discontinued miglustat after 4 months of treatment due to the adverse events and the above-mentioned pulmonary infections. Voriconazole was administered, and after 10 days his cough decreased but, after some days, returned, alongside malaise and night sweats. CT of the chest disclosed a new infiltrate in the lower lobe of the right lung, despite antifungal therapy ( Figure 2 ). Treatment with rifampicin, ethambutol, and clarithromycin for Mycobacterium avium was initiated. After 4 months of therapy, the patient was stronger, his cough and night sweats were clearly reduced, and he had regained 10 kg of body weight. After the Cerezyme® supply shortage had ceased, the patient was offered to start ERT. Unfortunately, he strongly refused administration of ERT despite our recommendations. Now, almost 2.5 years after the initiation of the triple therapy, and with intermittent periods of negativity, the patient is recurrently positive for Mycobacterium avium in his sputum, despite 8 months of triple therapy administered during the preceding year. During the periods of deterioration in his general condition, he was also positive for Aspergillus fumigatus in sputum."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"miglustat , which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme ® during 2009–2010 ( 9 ) . He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally .",
"After the Cerezyme ® supply shortage had ceased , the patient was offered to start ERT"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"As a 3 - week - old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed",
"moderate hemolytic anemia was also found ( red blood cells : 3.68 × 10 6, hemoglobin : 10.6 g / dl, hematocrit : 33.0 %, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G / DL, platelets 124 × 10 3 ml, white blood cells : 3.6 × 10 3, reticulocytes : 58 ( 5 - 15 ) ), but did not require a blood transfusion"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Gastrointestinal-System
|
GI
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Patient-History
|
History
|
[
"At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine.",
"hemolytic anemia of the newborn",
"At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Neurology
|
Neuro
|
[
"intellectual development was normal"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"moderate hemolytic anemia was also found ( red blood cells : 3.68 × 10 6, hemoglobin : 10.6 g / dl, hematocrit : 33.0 %, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G / DL, platelets 124 × 10 3 ml, white blood cells : 3.6 × 10 3, reticulocytes : 58 ( 5 - 15 ) ),",
"urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal.",
"Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable.",
"Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High - pressure liquid chromatography of the urine demonstrated 85 % of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617",
"Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T > C ( p. Cys73Arg ) in exon 4 and c.683c > T ( p. Thr228Met ) in exon 10"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Cardiovascular-System
|
CVS
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Endocrinology
|
ENDO
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Genitourinary-System
|
GU
|
[
"episodes of red urine.",
"intensity of the red coloration of the urine varied from day to day.",
"Ultrasound examination of the kidneys and heart were normal"
] |
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