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9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"13 - year - old"
] |
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"13 - year - old"
] |
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"confirmed the diagnosis of autosomal dominant AIP"
] |
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The patient received dextrose 25 % and 2 doses of hemin 250 mg once daily for four days , 2 weeks apart followed by another dose after 2 months . There was a marked improvement regarding the weakness , and abdominal pain , and we managed to wean her from mechanical ventilation ."
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Gastrointestinal-System
|
GI
|
[
"intermittent abdominal pain accompanied by changes in stool habits",
"mild tenderness in the right lower abdomen",
"intermittent abdominal pain accompanied by changes in stool habits",
"no abdominal distention, nausea, vomiting, constipation, or diarrhea",
"mild tenderness only in the right lower abdomen"
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Patient-History
|
History
|
[
"The patient was a 32 - year - old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms.",
"she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital",
"Given the patient ’s family history of colon and uterine cancer",
"A 32 - year - old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient ’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient ’s visit to our hospital",
"On the patient ’s maternal side, there was a history of rectal cancer ( the patient ’s grandmother, an uncle, and an aunt ), uterine cancer ( a 29 - year - old female cousin ), rectal cancer with uterine cancer ( two aunts ), and colon polyposis ( a 29 - year - old male cousin )",
"Given the patient ’s family history of cancer"
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Neurology
|
Neuro
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Preoperative abdominal contrast - enhanced computed tomography ( CT ) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery ( SMA ). On the other side, the SMA and superior mesenteric vein ( SMV ) were found to be accompanied like “ X”-shaped variant",
"The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon",
"No significant abnormalities were found in serum tumor markers",
"Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast - enhanced computed tomography ( CT ) showed ascending colon cancer with intussusception",
"surgery，abdominal contrast - enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery ( RCA ) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C )",
"Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer ( AJCC ) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient ’s tumor sample",
"the results revealed MLH1 c.885 - 1_893del"
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Cardiovascular-System
|
CVS
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Endocrinology
|
ENDO
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Genitourinary-System
|
GU
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Respiratory-System
|
RESP
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Musculoskeletal-System
|
MSK
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Dermatology
|
DERM
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Pregnancy
|
Pregnancy
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Lymphatic-System
|
LYMPH
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"32 - year - old",
"32 - year - old"
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon . Given the patient ’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next - generation sequencing , we concluded that she had Lynch syndrome ( LS"
] |
9511195
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
{'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the right lower abdomen. Subsequently, she underwent laparoscopic radical right hemicolectomy for ascending colon cancer under general anesthesia in our hospital. Preoperative abdominal contrast-enhanced computed tomography (CT) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery (SMA). On the other side, the SMA and superior mesenteric vein (SMV) were found to be accompanied like “X”-shaped variant. The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon. Given the patient’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next-generation sequencing, we concluded that she had Lynch syndrome (LS).', 'Case presentation': 'A 32-year-old female patient was admitted to The First Affiliated Hospital of Air Force Medical University on August 27, 2021, after experiencing intermittent abdominal pain accompanied by changes in stool habits for 3 months. The patient reported no abdominal distention, nausea, vomiting, constipation, or diarrhea. In terms of family medical history, the patient’s mother had undergone surgery for colon cancer in July 2015 and May 2021, and for cervical cancer in December 2020, and was living without disease recurrence at the time of the patient’s visit to our hospital. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki (as revised in 2013). Oral informed consent was obtained from the patient. On the patient’s maternal side, there was a history of rectal cancer (the patient’s grandmother, an uncle, and an aunt), uterine cancer (a 29-year-old female cousin), rectal cancer with uterine cancer (two aunts), and colon polyposis (a 29-year-old male cousin) ( Figure 1A ). A physical examination showed mild tenderness only in the right lower abdomen. No significant abnormalities were found in serum tumor markers. A colonoscopy revealed a cauliflower-like mass at the beginning of the ascending colon ( Figure 1B ). Biopsy suggested moderately differentiated adenocarcinoma ( Figure 1C ). Abdominal contrast-enhanced computed tomography (CT) showed ascending colon cancer with intussusception ( Figure 1D ). The preoperative diagnosis was cT3N0M0 colon cancer, according to the TNM classification. On August 27, 2021, the patient underwent laparoscopic radical right hemicolectomy under general anesthesia. During the operation, we found that there were two ICAs derived from the SMA, with the ileocolic vein (ICV) crossing anterior to the SMA ( Figure 2A ). The right colic vein was also absent ( Figure 2B ). The gastrocolic trunk of Henle was draining into the superior mesenteric vein (SMV), which was joined by the right gastroepiploic and colic veins, the anterior superior pancreaticoduodenal vein, and the superior right colic vein ( Figure 2C ). Furthermore, the SMA and SMV were found to be accompanied like “X”-shaped variant ( Figure 2D ). As we saw in the surgery，abdominal contrast-enhanced CT revealed two ICAs deriving from the SMA ( Figure 3A ). The right colic artery (RCA) originated from the front of the SMA ( Figure 3B ). The proximal end of the SMA was located on the left side of the SMV, but the distal end of the SMA was always located on the right side of the SMV ( Figure 3A,3C ). We summarized the schematic diagram of vascular variation of this patient ( Figure 3D ). The patient was discharged on the fourth day after surgery. Surgical pathology results suggested that the ascending colon mass was a moderately differentiated adenocarcinoma with locally advanced mucinous adenocarcinoma. The pathological staging was pT3N1aM0 according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, Eighth Edition ( Figure 4 ). Immunohistochemical results showed positive expression of MSH2 and MSH6 ( Figure 5A,5B ), but negative expression of MLH1 and PMS2 in the patient’s tumor sample ( Figure 5C,5D ). Given the patient’s family history of cancer, we highly suspected Lynch syndrome (LS). Next-generation sequencing (NGS), performed by 3D Medicines Inc. (Shanghai, China), was used to analyze tumor and blood samples from the patient. As shown in Figure 6, the results revealed MLH1 c.885-1_893del, which may represent a change in the conformation of the acceptor splicing site, which may have impeded mRNA formation, eventually leading to deficient mismatch repair. Seven weeks after surgery, the patient was administered a regimen of adjuvant chemotherapy with CapeOX (day 1, oxaliplatin 130 mg/m 2, day 1 to 14 capecitabine 1,000 mg/m 2, po, twice a day, every 3 weeks) for four cycles. Four months after the end of chemotherapy, CT reexamination showed no tumor recurrence ( Figure 7 ).'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"On presentation, she was afebrile ( 36.7 ° C ), had a normal heart rate ( 85 beats per minute ), normal respiratory rate ( 16 breaths per minute ), and was normotensive ( 121/80 mmHg )."
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Gastrointestinal-System
|
GI
|
[
"no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation",
"severe nausea and negligible improvement of her abdominal pain",
"The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness",
"Her appetite improved, but her abdominal pain persisted",
"pain remained out of proportion to her physical examination",
"abdominal pain and bowel symptoms resolved"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Patient-History
|
History
|
[
"A 22 - year - old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections ( UTIs ), previously diagnosed by her primary care physician, presented with an 8 - day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain",
"she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Neurology
|
Neuro
|
[
"alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Laboratory examinations were remarkable only for hyponatremia of 130 mEq / L and hypoalbuminemia at 3.4 g / dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"Her initial computerized tomography ( CT ) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm",
"Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B.",
"A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease",
"A random urine PBG was elevated at 99.9 mg / g ( normal < 0.22 mg / g ), with a urine delta aminolevulinic acid ( ALA ) elevated at 71.9 mg / g ( normal < 5.4 mg / g ). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Cardiovascular-System
|
CVS
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Endocrinology
|
ENDO
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Genitourinary-System
|
GU
|
[
"dysmenorrhea and recurrent urinary tract infections ( UTIs ),",
"recurrent UTIs",
"dysmenorrhea",
"hyponatremia of 130 mEq / L",
"Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Respiratory-System
|
RESP
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Musculoskeletal-System
|
MSK
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Dermatology
|
DERM
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Pregnancy
|
Pregnancy
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Lymphatic-System
|
LYMPH
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"22 - year - old"
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"biochemical diagnosis of AIP ."
] |
9243374
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
{'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation. She had tried multiple laxatives for symptom relief. She also reported frequent antibiotic usage, most recently ciprofloxacin, for recurrent UTIs. She had previously been prescribed an oral contraceptive for dysmenorrhea, but it was recently discontinued due to severe nausea and negligible improvement of her abdominal pain. On presentation, she was afebrile (36.7°C), had a normal heart rate (85 beats per minute), normal respiratory rate (16 breaths per minute), and was normotensive (121/80 mmHg). On physical examination, the patient was alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances. The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness. Laboratory examinations were remarkable only for hyponatremia of 130 mEq/L and hypoalbuminemia at 3.4 g/dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm/kg and urine sodium was 100 mEq/L, indicating a syndrome of inappropriate antidiuretic hormone secretion (SIADH). Her initial computerized tomography (CT) scan of the abdomen and pelvis ( Figure 1 ) revealed a diffusely dilated small bowel filled with fecal matter and marked colonic distention with cecal dilatation measuring 9 cm. She was kept nil per os, except for medications, and a nasogastric tube was placed for bowel decompression. A colonoscopy found only granular and punctate erythematous mucosa in the rectum and sigmoid colon with mild nonspecific ileitis and successfully decompressed the dilated colon. A few days after decompression, she developed several watery bowel movements and continued to have abdominal pain. Rapid stool studies were obtained and returned positive for Clostridium difficile antigen and toxin A&B. She was treated with oral vancomycin for 10 days. A repeat CT scan of her abdomen ( Figure 2 ) noted no further small bowel dilation, free air, or free fluid. CT enterography showed no bowel wall thickening or imaging features to suggest inflammatory bowel disease. Her appetite improved, but her abdominal pain persisted despite the antibiotic course, and pain remained out of proportion to her physical examination. The differential was broadened to include AIP. A random urine PBG was elevated at 99.9 mg/g (normal < 0.22 mg/g), with a urine delta aminolevulinic acid (ALA) elevated at 71.9 mg/g (normal < 5.4 mg/g). The fractionation of porphyrins in plasma ( Table 1 ) and urine ( Table 2 ) was suggestive of a biochemical diagnosis of AIP. Intravenous (IV) hematin 1 mg/kg/d and IV dextrose were given for 3 days. After hematin/dextrose therapy, her abdominal pain and bowel symptoms resolved. On subsequent questioning, it was found that she had no family history of porphyria, history of skin lesions, previous hospitalizations due to abdominal pain, history of urinary color changes, or any prior positive urine cultures within our medical institution. She improved clinically and was later discharged with education on how to reduce AIP acute attacks and followed as an outpatient by hematology. Two weeks after discharge, the patient was seen by her primary care physician and noted significant improvements in her appetite and abdominal pain without recurrence of constipation or diarrhea.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Intravenous ( IV ) hematin 1 mg / kg / d and IV dextrose were given for 3 days . After hematin / dextrose therapy , her abdominal pain and bowel symptoms resolved"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"low hemoglobin ( 9.5 g / dL )"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Gastrointestinal-System
|
GI
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Patient-History
|
History
|
[
"A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions."
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Neurology
|
Neuro
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate ( Figure 4 ). IHC was positive for CD68",
"Biological data showed low hemoglobin ( 9.5 g / dL ) and high erythrocyte sedimentation rate ( 75 mm / h ). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G > A; p. Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300 + 3A > G."
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Cardiovascular-System
|
CVS
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Endocrinology
|
ENDO
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Genitourinary-System
|
GU
|
[
"hyperpigmentation of labia majora"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Respiratory-System
|
RESP
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Musculoskeletal-System
|
MSK
|
[
"finger and toe flexion contracture ( camptodactyly and hallux valgus )"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"deformation of teeth",
"hearing loss in the early childhood",
"Ophthalmological examination showed chorioretinal atrophy"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Dermatology
|
DERM
|
[
"five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions",
"gluteal lipodystrophy, swelling with hyperpigmentation of labia majora",
"Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose ( Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network ( Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate ( Figure 4 ). IHC was positive for CD68",
"presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Pregnancy
|
Pregnancy
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Lymphatic-System
|
LYMPH
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"12‐year‐old"
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"H Syndrome was diagnosed based on histological , immunohistochemical ( IHC ) examination and molecular analysis ."
] |
9291265
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
{'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has gluteal lipodystrophy, swelling with hyperpigmentation of labia majora as well as finger and toe flexion contracture (camptodactyly and hallux valgus), and deformation of teeth (Figure 1 ). Erythematous, annular, and figurate lesions slightly keratotic without atrophy were present in cheeks and nose (Figure 2 ). Dermoscopy revealed multiple telangiectasias drawing a reticulated network (Figure 3 ). A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate (Figure 4 ). IHC was positive for CD68 (Figure 5 ). The diagnoses of a mycological cause, porokeratosis of Mibelli, and sub‐acute lupus erythematous were excluded. She has also been explored for hearing loss in the early childhood with hearing aids. Ophthalmological examination showed chorioretinal atrophy. Biological data showed low hemoglobin (9.5 g/dL) and high erythrocyte sedimentation rate (75 mm/h). The rest of laboratory tests including thyroid function tests, lipid profile, liver function tests, renal function tests, and antinuclear antibodies profile were all normal. Echocardiography and electrocardiogram were normal. Abdominal ultrasound found small uterus and ovaries with thickened skin and subcutis of vulva. Genetic analysis revealed homozygous missense mutation c.1088G>A; p.Arg363GIn in exon 6 in linkage disequilibrium with the same non‐pathogenic variant at intron 2 c.300+3A>G. H Syndrome was diagnosed based on histological, immunohistochemical (IHC) examination and molecular analysis. The unusual feature of this case of H Syndrome was the presence of erythematous annular and figurate lesions that were slightly keratotic in cheeks and nose, thus representing a new clinical feature of H Syndrome.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Gastrointestinal-System
|
GI
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Patient-History
|
History
|
[
"A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair.",
"The patient was married, but he was infertile"
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Neurology
|
Neuro
|
[
"gradually worsening gait disorder, impaired balance, and repeated falling episodes",
"school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech",
"severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes",
"Gait disorder worsened gradually, and he started using a wheelchair.",
"muscle weakness predominant in the distal muscles of upper and lower limbs ( MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction ), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally",
"A brain magnetic resonance imaging ( MRI ) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted ( T2W ) and fluid‐attenuated inversion recovery ( FLAIR ) images with corresponding hypointensities on T1‐weighted ( T1W ) images"
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging ( MRI ) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted ( T2W ) and fluid‐attenuated inversion recovery ( FLAIR ) images with corresponding hypointensities on T1‐weighted ( T1W ) images ( Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784 : exon3 : c.465C > A; ( p. Tyr155 * ) in CYP27A1 gene compatible with a diagnosis of CTX.",
"Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y."
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Cardiovascular-System
|
CVS
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Endocrinology
|
ENDO
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Genitourinary-System
|
GU
|
[
"he was infertile",
"Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia."
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Respiratory-System
|
RESP
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Musculoskeletal-System
|
MSK
|
[
"bilateral tendinous swelling of the posterior part of the ankles that worsened over time",
"multiple bone fractures",
"bilateral and symmetrical painless hypertrophy of the Achilles tendons",
"muscle weakness predominant in the distal muscles of upper and lower limbs ( MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction ),",
"focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side"
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"blurred vision, which was diagnosed as a bilateral cataract."
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Dermatology
|
DERM
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Pregnancy
|
Pregnancy
|
[
"He was delivered following a normal term pregnancy with normal birthweight and height."
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Lymphatic-System
|
LYMPH
|
[] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"31‐year‐old"
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"of five"
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"diagnosis of CTX ."
] |
9718918
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
{'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. History of atheromatous disease or intractable infantile‐onset diarrhea was not distinguished. At the age of five, he developed a blurred vision, which was diagnosed as a bilateral cataract. The patient was a school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech with a normal physical growth. At the age of 20, he developed bilateral tendinous swelling of the posterior part of the ankles that worsened over time. He complained of severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes resulting in multiple bone fractures. Gait disorder worsened gradually, and he started using a wheelchair. On physical examination, he had bilateral and symmetrical painless hypertrophy of the Achilles tendons (Figure 1 ). Neurological examination showed muscle weakness predominant in the distal muscles of upper and lower limbs (MRC score of 3 in the foot dorsiflexion and MRC score 2 in the finger adduction and abduction), hypertonia, brisk deep tendon reflexes, bilateral Babinski sign, and ankle clonus. The finger to nose was normal, but the heel to shin was abnormal bilaterally. The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging (MRI) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebellar deep white matter and paraventricular white matter on T2‐weighted (T2W) and fluid‐attenuated inversion recovery (FLAIR) images with corresponding hypointensities on T1‐weighted (T1W) images (Figure 2 ). Ultrasonography demonstrated focal areas of hypoechogenicity on the bilateral Achilles tendons measuring 3, 7, 9, 12, and 16 mm on the right and 8, 15, 11, and 14 mm on the left side. Whole‐exome sequencing identified a homozygous splicing mutation, NM_000784: exon3: c.465C>A; (p. Tyr155*) in CYP27A1 gene compatible with a diagnosis of CTX. The patient was married, but he was infertile. Sex hormone tests were normal. Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia. Analysis of the most common Y chromosome microdeletions using multiplex polymerase chain reaction and gel electrophoresis showed no microdeletions in AZFa, AZFb, and AZFc sub‐regions of the long arm of chromosome Y.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"his weight was 54 kg ( 11.70 percentile ), height was 158 cm ( 1.07 percentile ), and head circumference was 56 cm"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Gastrointestinal-System
|
GI
|
[
"diarrhea and jaundice"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Patient-History
|
History
|
[
"A 17 - year - old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third - degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal."
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Neurology
|
Neuro
|
[
"intellectually disabled",
"abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs",
"development was normal",
"ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity",
"peripheral neuropathy, hallucinations, depression, and delusion",
"Electromyography and nerve conduction velocity ( EMG / NCV ) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal",
"Brain magnetic resonance imaging ( MRI ) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities",
"absence of seizures",
"intellectual disability"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Laboratory tests showed a normal cholesterol level in the serum ( 162 mg / dL ) and a normal total serum bile acid level ( 10 µmol / L )",
"Brain magnetic resonance imaging ( MRI ) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities",
"The genetic study was performed by the next - generation sequencing ( NGS ) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1 ) : c.803G > A ( p. Trp268 * ) and NM_032382.5(COG8 ) : c.1073G > A ( p. Arg358Gln ) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics ( ACMG ) classification.",
"In a 3 - month follow - up, he had a cholesterol level of 96 mg / dL and a bile acid level of 4 µmol / L which both were normal"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Cardiovascular-System
|
CVS
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Endocrinology
|
ENDO
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Genitourinary-System
|
GU
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Respiratory-System
|
RESP
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Musculoskeletal-System
|
MSK
|
[
"car accident that caused a fracture in his skull",
"no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"bilateral cataracts",
"visual impairment"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Dermatology
|
DERM
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Pregnancy
|
Pregnancy
|
[
"born at term after a normal pregnancy"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Lymphatic-System
|
LYMPH
|
[] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"17 - year - old"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"infancy"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"our patient was diagnosed with CTX and a mutation on COG8 gene"
] |
10126670
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
{'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brought him to the clinic. He had diarrhea and jaundice during infancy and underwent phototherapy 3 times until the jaundice was completely resolved. Also, he had bilateral cataracts at the age of 12. At the age of 14, he had a car accident that caused a fracture in his skull. He had no history of cardiovascular or pulmonary diseases, and there was no genetic disorder in his family history. He was the fourth child of the third-degree consanguineous marriage and was born at term after a normal pregnancy, and his development was normal. At the time of admission to the clinic, his weight was 54 kg (11.70 percentile), height was 158 cm (1.07 percentile), and head circumference was 56 cm. Physical examination revealed ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity. Eye examination and other neurological tests were performed because of his symptoms such as visual impairment, peripheral neuropathy, hallucinations, depression, and delusion and yielded negative results. There was no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be the result of presence of small xanthoma in the tendons of the right hand ( Figure 1 ). Electromyography and nerve conduction velocity (EMG/NCV) revealed no evidence of myopathy or neuropathy, and the motor and sensory conduction velocities were normal. Laboratory tests showed a normal cholesterol level in the serum (162 mg/dL) and a normal total serum bile acid level (10 µmol/L). Other laboratory test results are shown in Table 1 . Brain magnetic resonance imaging (MRI) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities ( Figure 2 ). The genetic study was performed by the next-generation sequencing (NGS) method, and the results were confirmed by the Sanger sequencing method. The apparent homozygous variants in the NM_000784.4(CYP27A1) : c.803G>A (p.Trp268*) and NM_032382.5(COG8) : c.1073G>A (p.Arg358Gln) in the CYP27A1 and COG8 genes were found which are pathogenic based on American College of Medical Genetics (ACMG) classification. 9, 10 Therefore, our patient was diagnosed with CTX and a mutation on COG8 gene . In due course, we started CDCA 810 mg daily (15 mg/kg/day). In a 3-month follow-up, he had a cholesterol level of 96 mg/dL and a bile acid level of 4 µmol/L which both were normal, and the symptoms had been under control. Due to the absence of seizures, he did not receive any additional treatment. Since then, he was followed every 3 months with a physical examination and laboratory tests including cholesterol level. In addition, the patient’s family was consulted on how to respond correctly to his needs, due to his intellectual disability.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"In due course , we started CDCA 810 mg daily ( 15 mg / kg / day ) ."
] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Gastrointestinal-System
|
GI
|
[] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Patient-History
|
History
|
[
"A 33 - year - old woman was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. There was no family history of psychiatric diseases",
"At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis"
] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Neurology
|
Neuro
|
[
"was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. ',",
"admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported.",
"cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood.",
"the patient was diagnosed with organic schizophrenia - like disorder",
"During hospitalization in the psychiatric ward, the patient ’s brief psychiatric rating sale ( BPRS ) score was 40, her Wechsler intelligence scale score was 65",
"Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel - knee - tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following : verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight",
"For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people 's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia. \"",
"According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies.",
"skewed walking to the right side 5 years ago"
] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"total biliary acid returned to normal levels",
"Brain magnetic resonance imaging ( MRI ) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1 - weighted images ( T1WI ) ( Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery ( FLAIR ) ( Figure 2B ). Left - ankle - joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within ( Figure 1B ). Brain magnetic resonance spectroscopy ( MRS ) showed decreases in N - acetylaspartate ( NAA ) intensities and increases in lactate and lipid signals",
"the total biliary acid level returned to normal",
"biochemical tests revealed an elevated total biliary acid level of 11.2 µmol / L ( normal value ≤ 10.0 ) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages ( Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX : c.1263 + 3G > C and c.379C > T."
] |
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Cardiovascular-System
|
CVS
|
[] |
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