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 |
|---|---|---|---|---|---|
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Respiratory-System | RESP | [] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Musculoskeletal-System | MSK | [
"low height for age",
"Skeletal examination was normal"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Eyes-Ears-Nose-Throat | EENT | [
"bilateral hearing loss was present since 5 years of age",
"proptosis,",
"Auditory evaluation revealed bilateral sensorineural hearing loss"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Dermatology | DERM | [
"hyperpigmentation over the thighs",
"skin thickening over the buttocks, thighs, and legs",
"proptosis, webbing of neck",
"well - defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Simila... |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Pregnancy | Pregnancy | [] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Lymphatic-System | LYMPH | [
"webbing of neck"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Age-at-Presentation | Age (at case presentation) | [
"12 - year - old"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Age-of-Onset | Age (of onset) | [
"birth"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"we made the diagnosis of H syndrome"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | IEM-Treatment | IEM_Treatment | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Vitals-and-Hematology | Vitals_Hema | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Gastrointestinal-System | GI | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Patient-History | History | [
"A 52 - year - old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication ( Timolol 2 / day ) was referred to our service to assess the performance of a keratoplasty"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Neurology | Neuro | [
"epilepsy"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Laboratory-and-Imaging | Lab_Image | [
"double homozygous for CEP"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Cardiovascular-System | CVS | [
"hypertension"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Endocrinology | ENDO | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Genitourinary-System | GU | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Respiratory-System | RESP | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Musculoskeletal-System | MSK | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Eyes-Ears-Nose-Throat | EENT | [
"glaucoma",
"central corneal conjunctivalization of the right eye ( OD ) and the onset of inferior conjunctivalization of the left eye ( OS ). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes ( OU",
"visual acuity of 0.16 OD and 0.4 OS. I... |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Dermatology | DERM | [
"intense dermatological lesions on the face and extremities"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Pregnancy | Pregnancy | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Lymphatic-System | LYMPH | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Age-at-Presentation | Age (at case presentation) | [
"52 - year - old"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Age-of-Onset | Age (of onset) | [] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CEP"
] |
6786212 | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | IEM-Treatment | IEM_Treatment | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Vitals-and-Hematology | Vitals_Hema | [
"height was 133 centimeters. Her blood pressure was 140/88",
"His height was in the fifth centile. His blood pressure was 130/80 mm Hg",
"His final height was 139 centimeters"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Gastrointestinal-System | GI | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Patient-History | History | [
"was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation.",
"Feminizing genitoplasty ( clitoral reccesion ) was performed at the age of 16 years",
"Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Neurology | Neuro | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Laboratory-and-Imaging | Lab_Image | [
"normal female karyotype and normal electrolytes. An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline cortisol ( F ) level of 28 nmol / L, ACTH of 201 ng / mL ( normal, 0–46 ), 11 - deoxycorticosterone ( 11 - DOC ) of 20 nmol / L ( normal, 0.49–3.3 ), 17 - hydroxyprogesterone ( 17 - OHP ) of ... |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Cardiovascular-System | CVS | [
"Her blood pressure was 140/88.",
"His blood pressure was 130/80 mm Hg."
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Endocrinology | ENDO | [
"severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds",
"started to have irregular menstruation",
"short male - looking",
"Tanner stage IV breast development",
"An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline c... |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Genitourinary-System | GU | [
"severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds",
"Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable",
"normal uterus an... |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Respiratory-System | RESP | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Musculoskeletal-System | MSK | [
"closed epiphyses on a bone age X - ray",
"bone age of 16 years"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Eyes-Ears-Nose-Throat | EENT | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Dermatology | DERM | [
"acne",
"acne"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Pregnancy | Pregnancy | [
"She was a product of a full - term spontaneous vaginal delivery at home",
"He was born at home"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Lymphatic-System | LYMPH | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Age-at-Presentation | Age (at case presentation) | [
"20 years old"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Age-of-Onset | Age (of onset) | [] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"she was diagnosed as having 11 - hydroxylase deficiency",
"He was diagnosed as having 11 - hydroxylase deficiency"
] |
6074433 | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | IEM-Treatment | IEM_Treatment | [
"was started on hydrocortisone 10 mg twice a day",
"started on hydrocortisone 10 mg twice a day ."
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Vitals-and-Hematology | Vitals_Hema | [
"Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37 ° C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height / age, -1.7 SD; BMI / age, -0.9 SD"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Gastrointestinal-System | GI | [
"Mild hepatosplenomegaly",
"mild hepatosplenomegaly"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Patient-History | History | [
"A 16 - year - old Iraqi boy, born of first - cousin parents, presented to our outpatient clinic at Al - Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertric... |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Neurology | Neuro | [
"speaking difficulties",
"speaking difficulties",
"delayed walking until the age of 2 years",
"brain magnetic resonance imaging was normal"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Laboratory-and-Imaging | Lab_Image | [
"elevated erythrocyte sedimentation rate of 93 ( normal range, 0–15 mm / h ), elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL ). Complete blood count showed mild microcytic anemia. Thyroi... |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Cardiovascular-System | CVS | [
"nonpitting edema of the ankles"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Endocrinology | ENDO | [
"gynecomastia",
"pubic hair presents in normal distribution",
"elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL )"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Genitourinary-System | GU | [
"hypospadias",
"hypospadias",
"Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Respiratory-System | RESP | [] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Musculoskeletal-System | MSK | [
"finger and toe deformities ( hallux valgus )",
"Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers",
"Hallux valgus deformity, with flexion contractures of the toes and little fingers"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Eyes-Ears-Nose-Throat | EENT | [
"hearing loss, speaking difficulties",
"corneal arcus",
"hearing loss and speaking difficulties",
"ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity... |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Dermatology | DERM | [
"hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing",
"premature graying of the hair",
"Large hyperpigment... |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Pregnancy | Pregnancy | [] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Lymphatic-System | LYMPH | [
"Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Age-at-Presentation | Age (at case presentation) | [
"16 - year - old"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Age-of-Onset | Age (of onset) | [
"These features started at age 10 , except for the hypospadias , which was present since birth , and the hearing loss and speaking difficulties , which were diagnosed in early childhood"
] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
6453830 | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | IEM-Treatment | IEM_Treatment | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Vitals-and-Hematology | Vitals_Hema | [
"her blood pressure was 136/101 mm Hg, and her heart rate was 109 / min",
"moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Gastrointestinal-System | GI | [
"ileus",
"abdominal pain as well as constipation",
"recurrent abdominal pain",
"her abdominal pain regressed",
"Unexplained abdominal pain",
"abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week",
"acute pancreatitis",
"paroxysmal pain was not relieved",
"r... |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Patient-History | History | [
"An 18 - year - old girl was admitted to our hospital following development of generalized tonic - clonic seizure in November 2016.",
"In December 2014, a 27 - year - old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week."
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Neurology | Neuro | [
"generalized tonic - clonic seizure",
"brain MRI was performed in her local hospital indicating PRES",
"seizures",
"seizures",
"no focal neurological deficit",
"hallucination",
"The cerebral spinal fluid ( CSF ) analysis was normal",
"Brain MRI performed in our hospital 6 days later revealed partial r... |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Laboratory-and-Imaging | Lab_Image | [
"and a series of tests including abdominal X - ray, CT scan, and ultrasound were normal",
"Except for remarkable hyponatremia of 104 mmol / L, her serum potassium was 3.0 mmol / L, aspartate transaminase 243 U / L, alanine transaminase 142 U / L, and total bilirubin 37 μmol / L. Tests for antinuclear and anticar... |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Cardiovascular-System | CVS | [
"blood pressure increased",
"moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Endocrinology | ENDO | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Genitourinary-System | GU | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Respiratory-System | RESP | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Musculoskeletal-System | MSK | [
"lumbar pain",
"lumbar pain"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Eyes-Ears-Nose-Throat | EENT | [
"no complaint of visual disturbance"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Dermatology | DERM | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Pregnancy | Pregnancy | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Lymphatic-System | LYMPH | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Age-at-Presentation | Age (at case presentation) | [
"18 - year - old",
"27 - year - old"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Age-of-Onset | Age (of onset) | [] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AIP was confirmed",
"AIP",
"The diagnosis of AIP"
] |
6133578 | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | IEM-Treatment | IEM_Treatment | [
"The patient was given a high carbohydrate diet and intravenous dextrose . No hematin was available for her",
"Hematin",
"Glucose infusion and a high carbohydrate diet were given to the patient , as hematin was not available"
] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Vitals-and-Hematology | Vitals_Hema | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Gastrointestinal-System | GI | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Patient-History | History | [
"A 20 - year - old male presented with a gradually increasing swelling of the left testis for 1 year duration"
] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Neurology | Neuro | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Laboratory-and-Imaging | Lab_Image | [
"Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml in volume ( 6.6 cm × 3.7 cm × 2.3 cm ), left testis measuring 52.1 ml in volume ( 6.2 cm × 4.5 cm × 3.6 cm ) ). In addition, there were bilateral grade - II varicocele. Seminal fluid analysis showed azoospermia... |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Cardiovascular-System | CVS | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Endocrinology | ENDO | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Genitourinary-System | GU | [
"gradually increasing swelling of the left testis",
"large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill - defined with an approximate diameter of 3.5 cm",
"Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml ... |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Respiratory-System | RESP | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Musculoskeletal-System | MSK | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Eyes-Ears-Nose-Throat | EENT | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Dermatology | DERM | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Pregnancy | Pregnancy | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Lymphatic-System | LYMPH | [] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Age-at-Presentation | Age (at case presentation) | [
"20 - year - old"
] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Age-of-Onset | Age (of onset) | [
"age of 1 year"
] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"He was diagnosed to have CAH at the age of 1 year"
] |
6189373 | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | IEM-Treatment | IEM_Treatment | [
"A course of prednisolone was started and there was good response ."
] |
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