serial-number stringlengths 6 9 | pmcid stringclasses 138
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values | context stringclasses 138
values | role stringclasses 18
values | role-name stringclasses 18
values | raw-initial-ground-truth listlengths 0 18 |
|---|---|---|---|---|---|---|
test-2301 | 9637264 | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | Age-at-Presentation | Age (at case presentation) | [
"13 - year - old"
] |
test-2302 | 9637264 | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | Age-of-Onset | Age (of onset) | [
"13 - year - old"
] |
test-2303 | 9637264 | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"confirmed the diagnosis of autosomal dominant AIP"
] |
test-2304 | 9637264 | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | IEM-Treatment | IEM_Treatment | [
"The patient received dextrose 25 % and 2 doses of hemin 250 mg once daily for four days , 2 weeks apart followed by another dose after 2 months . There was a marked improvement regarding the weakness , and abdominal pain , and we managed to wean her from mechanical ventilation ."
] |
test-2305 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Vitals-and-Hematology | Vitals_Hema | [] |
test-2306 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Gastrointestinal-System | GI | [
"intermittent abdominal pain accompanied by changes in stool habits",
"mild tenderness in the right lower abdomen",
"intermittent abdominal pain accompanied by changes in stool habits",
"no abdominal distention, nausea, vomiting, constipation, or diarrhea",
"mild tenderness only in the right lower abdomen"
... |
test-2307 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Patient-History | History | [
"The patient was a 32 - year - old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms.",
"she underwent laparoscopic radical right hemicolectomy for asc... |
test-2308 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Neurology | Neuro | [] |
test-2309 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Laboratory-and-Imaging | Lab_Image | [
"Preoperative abdominal contrast - enhanced computed tomography ( CT ) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery ( SMA ). On the other side, the SMA and superior mesenteric vein ( SMV ) were found to be accompanied like “ X”-shaped variant... |
test-2310 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Cardiovascular-System | CVS | [] |
test-2311 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Endocrinology | ENDO | [] |
test-2312 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Genitourinary-System | GU | [] |
test-2313 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Respiratory-System | RESP | [] |
test-2314 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Musculoskeletal-System | MSK | [] |
test-2315 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Eyes-Ears-Nose-Throat | EENT | [] |
test-2316 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Dermatology | DERM | [] |
test-2317 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Pregnancy | Pregnancy | [] |
test-2318 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Lymphatic-System | LYMPH | [] |
test-2319 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Age-at-Presentation | Age (at case presentation) | [
"32 - year - old",
"32 - year - old"
] |
test-2320 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Age-of-Onset | Age (of onset) | [] |
test-2321 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon . Given the patient ’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next - generation sequencing , we concluded that she had Lynch syndrome ( LS"
] |
test-2322 | 9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | IEM-Treatment | IEM_Treatment | [] |
test-2323 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Vitals-and-Hematology | Vitals_Hema | [
"On presentation, she was afebrile ( 36.7 ° C ), had a normal heart rate ( 85 beats per minute ), normal respiratory rate ( 16 breaths per minute ), and was normotensive ( 121/80 mmHg )."
] |
test-2324 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Gastrointestinal-System | GI | [
"no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation",
"severe nausea and negligible improvement of her abdominal pain",
"The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness",
"Her appetite improved, but her... |
test-2325 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Patient-History | History | [
"A 22 - year - old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections ( UTIs ), previously diagnosed by her primary care physician, presented with an 8 - day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bl... |
test-2326 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Neurology | Neuro | [
"alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances"
] |
test-2327 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory examinations were remarkable only for hyponatremia of 130 mEq / L and hypoalbuminemia at 3.4 g / dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"Her initial computerized tomography ( CT ) sc... |
test-2328 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Cardiovascular-System | CVS | [] |
test-2329 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Endocrinology | ENDO | [] |
test-2330 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Genitourinary-System | GU | [
"dysmenorrhea and recurrent urinary tract infections ( UTIs ),",
"recurrent UTIs",
"dysmenorrhea",
"hyponatremia of 130 mEq / L",
"Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"no family history o... |
test-2331 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Respiratory-System | RESP | [] |
test-2332 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Musculoskeletal-System | MSK | [] |
test-2333 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Eyes-Ears-Nose-Throat | EENT | [] |
test-2334 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Dermatology | DERM | [] |
test-2335 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Pregnancy | Pregnancy | [] |
test-2336 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Lymphatic-System | LYMPH | [] |
test-2337 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Age-at-Presentation | Age (at case presentation) | [
"22 - year - old"
] |
test-2338 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Age-of-Onset | Age (of onset) | [] |
test-2339 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"biochemical diagnosis of AIP ."
] |
test-2340 | 9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | IEM-Treatment | IEM_Treatment | [
"Intravenous ( IV ) hematin 1 mg / kg / d and IV dextrose were given for 3 days . After hematin / dextrose therapy , her abdominal pain and bowel symptoms resolved"
] |
test-2341 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Vitals-and-Hematology | Vitals_Hema | [
"low hemoglobin ( 9.5 g / dL )"
] |
test-2342 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Gastrointestinal-System | GI | [] |
test-2343 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Patient-History | History | [
"A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions."
] |
test-2344 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Neurology | Neuro | [] |
test-2345 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Laboratory-and-Imaging | Lab_Image | [
"A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate ( Figure 4 ). IHC was positive for CD68",
"Biological data showed low hemoglobin ( 9.5 g / dL ) ... |
test-2346 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Cardiovascular-System | CVS | [] |
test-2347 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Endocrinology | ENDO | [] |
test-2348 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Genitourinary-System | GU | [
"hyperpigmentation of labia majora"
] |
test-2349 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Respiratory-System | RESP | [] |
test-2350 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Musculoskeletal-System | MSK | [
"finger and toe flexion contracture ( camptodactyly and hallux valgus )"
] |
test-2351 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Eyes-Ears-Nose-Throat | EENT | [
"deformation of teeth",
"hearing loss in the early childhood",
"Ophthalmological examination showed chorioretinal atrophy"
] |
test-2352 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Dermatology | DERM | [
"five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions",
"gluteal lipodystrophy, swelling with hyperpigmentation of labia majora",
"Erythematous, annular, and figurate ... |
test-2353 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Pregnancy | Pregnancy | [] |
test-2354 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Lymphatic-System | LYMPH | [] |
test-2355 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Age-at-Presentation | Age (at case presentation) | [
"12‐year‐old"
] |
test-2356 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Age-of-Onset | Age (of onset) | [] |
test-2357 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"H Syndrome was diagnosed based on histological , immunohistochemical ( IHC ) examination and molecular analysis ."
] |
test-2358 | 9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | IEM-Treatment | IEM_Treatment | [] |
test-2359 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Vitals-and-Hematology | Vitals_Hema | [] |
test-2360 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Gastrointestinal-System | GI | [] |
test-2361 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Patient-History | History | [
"A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. Hist... |
test-2362 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Neurology | Neuro | [
"gradually worsening gait disorder, impaired balance, and repeated falling episodes",
"school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech",
"severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes"... |
test-2363 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Laboratory-and-Imaging | Lab_Image | [
"The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging ( MRI ) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebe... |
test-2364 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Cardiovascular-System | CVS | [] |
test-2365 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Endocrinology | ENDO | [] |
test-2366 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Genitourinary-System | GU | [
"he was infertile",
"Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia."
] |
test-2367 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Respiratory-System | RESP | [] |
test-2368 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Musculoskeletal-System | MSK | [
"bilateral tendinous swelling of the posterior part of the ankles that worsened over time",
"multiple bone fractures",
"bilateral and symmetrical painless hypertrophy of the Achilles tendons",
"muscle weakness predominant in the distal muscles of upper and lower limbs ( MRC score of 3 in the foot dorsiflexion... |
test-2369 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Eyes-Ears-Nose-Throat | EENT | [
"blurred vision, which was diagnosed as a bilateral cataract."
] |
test-2370 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Dermatology | DERM | [] |
test-2371 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Pregnancy | Pregnancy | [
"He was delivered following a normal term pregnancy with normal birthweight and height."
] |
test-2372 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Lymphatic-System | LYMPH | [] |
test-2373 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Age-at-Presentation | Age (at case presentation) | [
"31‐year‐old"
] |
test-2374 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Age-of-Onset | Age (of onset) | [
"of five"
] |
test-2375 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosis of CTX ."
] |
test-2376 | 9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | IEM-Treatment | IEM_Treatment | [] |
test-2377 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Vitals-and-Hematology | Vitals_Hema | [
"his weight was 54 kg ( 11.70 percentile ), height was 158 cm ( 1.07 percentile ), and head circumference was 56 cm"
] |
test-2378 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Gastrointestinal-System | GI | [
"diarrhea and jaundice"
] |
test-2379 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Patient-History | History | [
"A 17 - year - old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brough... |
test-2380 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Neurology | Neuro | [
"intellectually disabled",
"abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs",
"development was normal",
"ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity",
"peripheral n... |
test-2381 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory tests showed a normal cholesterol level in the serum ( 162 mg / dL ) and a normal total serum bile acid level ( 10 µmol / L )",
"Brain magnetic resonance imaging ( MRI ) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities",
"The genetic study was performed by the next -... |
test-2382 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Cardiovascular-System | CVS | [] |
test-2383 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Endocrinology | ENDO | [] |
test-2384 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Genitourinary-System | GU | [] |
test-2385 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Respiratory-System | RESP | [] |
test-2386 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Musculoskeletal-System | MSK | [
"car accident that caused a fracture in his skull",
"no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be th... |
test-2387 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Eyes-Ears-Nose-Throat | EENT | [
"bilateral cataracts",
"visual impairment"
] |
test-2388 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Dermatology | DERM | [] |
test-2389 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Pregnancy | Pregnancy | [
"born at term after a normal pregnancy"
] |
test-2390 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Lymphatic-System | LYMPH | [] |
test-2391 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Age-at-Presentation | Age (at case presentation) | [
"17 - year - old"
] |
test-2392 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Age-of-Onset | Age (of onset) | [
"infancy"
] |
test-2393 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"our patient was diagnosed with CTX and a mutation on COG8 gene"
] |
test-2394 | 10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | IEM-Treatment | IEM_Treatment | [
"In due course , we started CDCA 810 mg daily ( 15 mg / kg / day ) ."
] |
test-2395 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Vitals-and-Hematology | Vitals_Hema | [] |
test-2396 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Gastrointestinal-System | GI | [] |
test-2397 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Patient-History | History | [
"A 33 - year - old woman was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. There was no family history of psychiatric diseases",
"At age 18, she underwent cataract surgery, and at age 26, she un... |
test-2398 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Neurology | Neuro | [
"was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. ',",
"admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported.",
"cerebellar s... |
test-2399 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Laboratory-and-Imaging | Lab_Image | [
"total biliary acid returned to normal levels",
"Brain magnetic resonance imaging ( MRI ) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1 - weighted images ( T1WI ) ( Fi... |
test-2400 | 10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | Cardiovascular-System | CVS | [] |
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