serial-number
stringlengths 6
9
| pmcid
stringclasses 138
values | text
stringclasses 138
values | context
stringclasses 138
values | role
stringclasses 18
values | role-name
stringclasses 18
values | raw-initial-ground-truth
listlengths 0
18
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|---|---|---|---|---|---|---|
test-1301
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"low levels of androstenedione",
"Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity"
] |
test-1302
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Cardiovascular-System
|
CVS
|
[
"patent foramen ovale"
] |
test-1303
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Endocrinology
|
ENDO
|
[] |
test-1304
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Genitourinary-System
|
GU
|
[
"cliteromegaly"
] |
test-1305
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Respiratory-System
|
RESP
|
[] |
test-1306
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1307
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"left - sided supernumerary nostril",
"Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity"
] |
test-1308
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Dermatology
|
DERM
|
[] |
test-1309
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Pregnancy
|
Pregnancy
|
[
"She was born 2300 g prematurely on her 37 th gestational week from a 34 - year - old mother with a history of five pregnancies, two still births and two abortions"
] |
test-1310
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1311
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"4 - year - old"
] |
test-1312
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1313
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"congenital adrenal hyperplasia"
] |
test-1314
|
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1315
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"white blood cell ( WBC ) count was normal"
] |
test-1316
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1317
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Patient-History
|
History
|
[
"A 3 - year - old boy was admitted to our emergency department because of convulsions and unconsciousness"
] |
test-1318
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Neurology
|
Neuro
|
[
"convulsions and unconsciousness",
"coma and had seizures",
"Electroencephalography showed focal epileptic activity",
"T2 - weighted and fluid attenuated inversion recovery ( FLAIR ) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical - subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical - subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient ( ADC ) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto - occiptal cortical - subcortical regions due to hypoxia and hypoglisemia",
"DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae"
] |
test-1319
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg / dl and white blood cell ( WBC ) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies",
"T2 - weighted and fluid attenuated inversion recovery ( FLAIR ) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical - subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical - subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient ( ADC ) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto - occiptal cortical - subcortical regions due to hypoxia and hypoglisemia",
"DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes"
] |
test-1320
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1321
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Endocrinology
|
ENDO
|
[] |
test-1322
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Genitourinary-System
|
GU
|
[] |
test-1323
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Respiratory-System
|
RESP
|
[] |
test-1324
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1325
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1326
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Dermatology
|
DERM
|
[] |
test-1327
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1328
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1329
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"3 - year - old"
] |
test-1330
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"birth"
] |
test-1331
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"He had been diagnosed as 21 - hydroxylase deficiency at birth ."
] |
test-1332
|
4564473
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowledge of the physician 3 days before the symptoms started. They were admitted to our hospital 6 hours after the onset of the symptoms. He was in coma and had seizures on admission. Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg/dl and white blood cell (WBC) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies. Intravenous hydrocortisone treatment was initiated. Electroencephalography showed focal epileptic activity. Routine brain MRI was performed. Diffusion weighted images (DWI) and susceptibility weighted images (SWI) were also obtained in order to detect ischemia and hemorrhage. T2-weighted and fluid attenuated inversion recovery (FLAIR) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical-subcortical regions and a hyperintense lesion in the splenium of the corpus callosum. Effacement of sulcal spaces was detected compatible with cerebral edema. Hyperintense cortical-subcortical signals and the lesion in the corpus callosum were hyperintense on DWI with reduced apparent diffusion coefficient (ADC) maps. There were no signal changes suggesting microhemorrhages on SWI. MRI findings were consistent with cytotoxic cerebral edema in bilateral frontal and parieto-occiptal cortical-subcortical regions due to hypoxia and hypoglisemia. We obtained follow-up brain MRI on fifth, twelfth, and twentieth days once the treatment has started. DWI and FLAIR images on day 20 indicated partial resolution of the high intensity lesions. Hyperintense signal changes gradually decreased and completely disappeared in frontal lobes. However, ventricular dilatation, mild cerebral cortical atrophy, T2 and FLAIR hyperintense signal changes in bilateral occipital lobes were detected on the last MRI. SWI was normal, and DWI showed restricted diffusion in bilateral occipital lobes. The patient exhibited epilepsy as neurological sequelae.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"He had been taking oral steroid ( hydrocortisone ) replacement therapy since then ."
] |
test-1333
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-1334
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Gastrointestinal-System
|
GI
|
[] |
test-1335
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Patient-History
|
History
|
[
"A 36 years man presented with severe obstructive LUTS"
] |
test-1336
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Neurology
|
Neuro
|
[] |
test-1337
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Prostate specific antigen ( PSA ) was 0.393 ng / mL",
"X - ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma",
"Biochemical analysis of urine showed the presence of homogentisic acid",
"On biochemical analysis, calculi were composed of calcium oxalate and uric acid",
"Punctate calcification in the region of pubic symphysis by X - ray of pelvis",
"Extensive prostatic calcification by computerized tomography"
] |
test-1338
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Cardiovascular-System
|
CVS
|
[] |
test-1339
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Endocrinology
|
ENDO
|
[] |
test-1340
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Genitourinary-System
|
GU
|
[
"severe obstructive LUTS",
"prostate was hard and nodular",
"Flow was a Q max of 2 mL / s for a voided volume of 130 mL and post void residual urine volume of 380 mL.",
"Prostate specific antigen ( PSA ) was 0.393 ng / mL",
"- ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma",
"passage of dark colored urine",
"multiple blackish calculi in prostatic urethra and in prostatic fossa",
"calculi were composed of calcium oxalate and uric acid",
"Punctate calcification in the region of pubic symphysis by X - ray of pelvis",
"Extensive prostatic calcification by computerized tomography"
] |
test-1341
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Respiratory-System
|
RESP
|
[] |
test-1342
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Musculoskeletal-System
|
MSK
|
[
"chronic low back ache. He was short statured with kyphotic spine"
] |
test-1343
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"Osler 's sign ( bluish discolouration of sclera ) was present",
"Osler 's sign"
] |
test-1344
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Dermatology
|
DERM
|
[] |
test-1345
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Pregnancy
|
Pregnancy
|
[] |
test-1346
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1347
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"36 years"
] |
test-1348
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1349
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"These findings confirmed the diagnosis of alkaptonuria ."
] |
test-1350
|
5730711
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma ( Fig. 2 ). On further evaluation, he gave history of passage of dark colored urine and chronic low back ache. He was short statured with kyphotic spine. Osler's sign (bluish discolouration of sclera) was present ( Fig. 3 ). Biochemical analysis of urine showed the presence of homogentisic acid. These findings confirmed the diagnosis of alkaptonuria. He underwent transurethtral clearance of prostatic calculi which revealed multiple blackish calculi in prostatic urethra and in prostatic fossa ( Fig. 4 ) and clearance of calculi. On biochemical analysis, calculi were composed of calcium oxalate and uric acid. Figure 1 Punctate calcification in the region of pubic symphysis by X-ray of pelvis. Figure 2 Extensive prostatic calcification by computerized tomography. Figure 3 Osler's sign. Figure 4 Cystoscopic view of prostatic urethra contaning calculi and postprocedure extracted calculi."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1351
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"short stature ( 145 cm"
] |
test-1352
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Gastrointestinal-System
|
GI
|
[
"mild hepatomegaly",
"mild hepatosplenomegaly"
] |
test-1353
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Patient-History
|
History
|
[
"A 29 - year - old male patient presented with a 6 - year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk",
"diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then"
] |
test-1354
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Neurology
|
Neuro
|
[
"nerve conduction studies were normal"
] |
test-1355
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes",
"Routine laboratory investigations revealed a fasting blood glucose level of 250 mg / dL and random blood sugar of 338 mg / dL with glycated hemoglobin 10.2 %. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative",
"Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal",
"Computed tomography ( CT ) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para - aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen"
] |
test-1356
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1357
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Endocrinology
|
ENDO
|
[
"as Type 1 diabetic",
"Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal",
"fasting blood glucose level of 250 mg / dL and random blood sugar of 338 mg / dL with glycated hemoglobin 10.2 %",
"serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal"
] |
test-1358
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Genitourinary-System
|
GU
|
[
"hypospadias, micropenis, scrotal swelling",
"small penis, normal echotexture, no calcific plaques, and small left testis",
"Marked thickening of the scrotum was seen"
] |
test-1359
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Respiratory-System
|
RESP
|
[] |
test-1360
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature"
] |
test-1361
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"voice was normal",
"Ophthalmologic and auditory examinations were normal"
] |
test-1362
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Dermatology
|
DERM
|
[
"asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking",
"large ill - defined hyperpigmented indurated plaques extending symmetrically from mid - truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch",
"Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse",
"Nails and teeth were normal",
"Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes",
"marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees"
] |
test-1363
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1364
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1365
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"A 29 - year - old"
] |
test-1366
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1367
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"H syndrome"
] |
test-1368
|
5903050
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but without much help. He was diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then. Cutaneous examination revealed large ill-defined hyperpigmented indurated plaques extending symmetrically from mid-truncal area to both thighs characteristically sparing the knees and medial aspect of buttocks. A prominent constriction band was noted around the abdomen. The lesions over thighs were associated with hypertrichosis and were warm to touch. Examination also revealed short stature (145 cm), hypospadias, micropenis, scrotal swelling, and mild hepatomegaly and inguinal lymphadenopathy. Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal. Nails and teeth were normal. Ophthalmologic and auditory examinations were normal. On the basis of cutaneous findings, we kept differential diagnosis of morphea profunda, pseudoscleroderma, POEMS syndrome, Rosai–Dorfman syndrome, pigmented hypertrichotic dermatosis, and scleredema as the possibilities. A deep skin biopsy was done from the indurated plaque on the lateral part of the left thigh and sent for histopathology. Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. Histopathology report suggested sclerodermatous changes with immunostain CD68+ve histiocytes. Routine laboratory investigations revealed a fasting blood glucose level of 250 mg/dL and random blood sugar of 338 mg/dL with glycated hemoglobin 10.2%. Thyroid profile, liver function, kidney function, serum testosterone, follicle stimulating hormone and luteinizing hormone levels were normal. Antinuclear antibody was negative. Ultrasound abdomen revealed mild hepatosplenomegaly and abdominal lymphadenopathy. Color Doppler study of the scrotal region revealed small penis, normal echotexture, no calcific plaques, and small left testis. Chest radiography and nerve conduction studies were normal. Computed tomography (CT) demonstrated marked symmetrical thickening of the skin with infiltration of subcutaneous tissue at the lower half of the body from infraumbilical region till scrotum and into bilateral gluteal region down to the knees. Para-aortic and inguinal lymphadenopathy and mild pericardial effusion were noted. Marked thickening of the scrotum was seen. A diagnosis of “H syndrome” was made. Genetic testing was not possible due to resource constraints.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1369
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-1370
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Gastrointestinal-System
|
GI
|
[
"chronic diarrhea, and intellectual disability, were not found"
] |
test-1371
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Patient-History
|
History
|
[
"A 63 - year - old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A - C ) was referred to our hospital due to an abdominal pulsatile mass",
"He had a history of hypertension for 5 years and a smoking habit ( 10 cigarettes / day",
"He was born to consanguineous parents ( second cousins ). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis"
] |
test-1372
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Neurology
|
Neuro
|
[
"did not show any neuropathyintellectual disability, were not found"
] |
test-1373
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm",
"Coronary angiography revealed mild to moderate coronary atherosclerotic lesions",
"modestly elevated LDL cholesterol level ( 166 mg / dL )",
"homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene ( c.410G > A or p. Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing",
"increased serum level of cholestanol was found ( 5.2 μg / mL, reference range 1.62 - 3.08",
"T2 - weighted and fluid - attenuated inversion recovery ( FLAIR ) magnetic resonance imaging showed periventricular white matter"
] |
test-1374
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Cardiovascular-System
|
CVS
|
[
"abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm",
"history of hypertension for 5 years",
"Coronary angiography revealed mild to moderate coronary atherosclerotic lesions",
"AAA"
] |
test-1375
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Endocrinology
|
ENDO
|
[] |
test-1376
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Genitourinary-System
|
GU
|
[] |
test-1377
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Respiratory-System
|
RESP
|
[] |
test-1378
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Musculoskeletal-System
|
MSK
|
[
"prominent Achilles tendon thickness"
] |
test-1379
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"juvenile cataract, chronic diarrhea, and intellectual disability, were not found"
] |
test-1380
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Dermatology
|
DERM
|
[
"plantar xanthomas"
] |
test-1381
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1382
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1383
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"63 - year - old"
] |
test-1384
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1385
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CTX"
] |
test-1386
|
5938503
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of hypertension for 5 years and a smoking habit (10 cigarettes/day). Coronary angiography revealed mild to moderate coronary atherosclerotic lesions ( Fig. 1E and F ). He was initially suspected of having FH based on his physical findings as well as the presence of AAA with a modestly elevated LDL cholesterol level (166 mg/dL). He was born to consanguineous parents (second cousins). He had no familial history of high LDL cholesterol, tendon xanthomas, or premature atherosclerosis. Recessive inherited disease was speculated at this point, so we investigated his genetic background using whole-exome sequencing, assuming a recessive form of inheritance. The mean depth was 99.9× per base across the whole exome. The percentage of on-target reads was 84.6%. Also, the coverage rate of target coding lesions (10×) was 99.0%. Bioinformatics analyses and segregation pattern matching followed by exome sequencing were performed for the patient to identify causative variants. The number of aligned variants in the patient that passed the standard quality control was 142,508. Of those, 15,335 were missense, nonsense, splice site, and frameshift variants. After removing “common” variants ( 10 ), 3,042 variants were detected. Subsequently, filtering against the segregation pattern assuming the recessive form of inheritance with the use of an in silico annotation prediction tool (scaled C-score >20) reduced the candidate variants to homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP27A1 ) gene (c.410G>A or p.Arg137Gln, Fig. 2A ). This mutation was confirmed by Sanger sequencing ( Fig. 2B and C ), and it has previously been reported to cause such a condition in other patients ( 9 ). Accordingly, an increased serum level of cholestanol was found (5.2 μg/mL, reference range 1.62-3.08). The patient did not show any neuropathy, although T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging showed periventricular white matter. Other classical phenotypes of CTX, such as juvenile cataract, chronic diarrhea, and intellectual disability, were not found. Endovascular repair (EVAR) was successfully performed for the treatment of his saccular type AAA. Atorvastatin 10 mg was used to reduce his LDL cholesterol, although chenodeoxycholic acid was not used due to the lack of neuropathy.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Atorvastatin"
] |
test-1387
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"118 cm tall"
] |
test-1388
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1389
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Patient-History
|
History
|
[
"The case was a 65 - year - old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm",
"previously undergone T7 – T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24",
"At the age of 34, she underwent a second posterior decompression surgery ( T4 – T9 )"
] |
test-1390
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Neurology
|
Neuro
|
[
"progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm",
"cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level",
"difficulty in walking",
"gait disturbance due to thoracic myelopathy",
"weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm",
"was able to walk only short distances supporting herself on a wall",
"decreased light touch and pinprick sensation, and motor weakness ( 3/5 strength ) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally",
"spinal cord compression at the levels of both the occipital bone and C1",
"free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane"
] |
test-1391
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction",
"Plain radiograph showed marked kyphosis of the thoracic spine ( T1 – T12 angle; 94 ° ) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B ). In contrast, decreased but preserved mobility ( 9 ° on flexion and extension ) was noted at the craniovertebral junction ( CVJ ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging ( MRI ) revealed spinal cord compression at the levels of both the occipital bone and C1"
] |
test-1392
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1393
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Endocrinology
|
ENDO
|
[] |
test-1394
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Genitourinary-System
|
GU
|
[] |
test-1395
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Respiratory-System
|
RESP
|
[] |
test-1396
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Musculoskeletal-System
|
MSK
|
[
"difficulty walking, neck pain",
"cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction",
"difficulty in walking",
"gait disturbance due to thoracic myelopathy",
"difficulty walking, neck pain",
"marked round back and bowed legs",
"kyphosis of the thoracic spine ( T1 – T12 angle; 94 °",
"ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B ). In contrast, decreased but preserved mobility ( 9 ° on flexion and extension ) was noted at the craniovertebral junction ( CVJ ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level"
] |
test-1397
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1398
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Dermatology
|
DERM
|
[] |
test-1399
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1400
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
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Lymphatic-System
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LYMPH
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[] |
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