id stringlengths 23 25 | dataset stringclasses 1
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values | document stringlengths 995 12k | questions listlengths 1 13 | ground_truth_arguments listlengths 1 18 |
|---|---|---|---|---|---|
CaseReportBench:train-77 | CaseReportBench | Laboratory-and-Imaging | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | [
"What neuroimaging findings are reported in the document, including CT and MRI observations of the thalamus, white matter, and any other brain structures that were noted as normal?"
] | [
"Cerebral computed tomography ( CT ) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter ( Fig. 1 ). With magnetic resonance imaging ( MRI ) the thalamus was hyperintense on T1 - weighted images and hypointense on T2 - weighted images ( ... |
CaseReportBench:train-187 | CaseReportBench | Laboratory-and-Imaging | {'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation reve... | [
"What were the patient's platelet count and white blood cell count at presentation?",
"What were the total bilirubin, direct bilirubin, and prothrombin time activity values recorded initially?",
"Which infectious serology tests were performed (HBV, HCV, EBV, H. pylori) and what were the results?",
"What was t... | [
"thrombocytopenia and slight leukocytopenia ( platelets 6.7 × 10 4 /μl, white blood cells 3,180 / μl ). Other laboratory findings disclosed : total bilirubin 1.4 mg / dl ( reference range 0.2–1.3 ), direct bilirubin 0.5 mg / dl ( reference range 0–0.3 ), and prothrombin time activity 77.0 % ( reference range... |
CaseReportBench:train-106 | CaseReportBench | Age-at-Presentation | {'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent... | [
"What was the patient's age at the time of presentation?"
] | [
"20 - year - old"
] |
CaseReportBench:train-466 | CaseReportBench | Musculoskeletal-System | {'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also... | [
"What is the patient's reported height or growth status?",
"What arm or elbow deformities are described in the patient?"
] | [
"short stature",
"cubitus valgus deformity"
] |
CaseReportBench:train-606 | CaseReportBench | Patient-History | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | [
"What are the patient’s demographic details (age, sex) and any diagnosed mitochondrial or genetic disorder?",
"Describe the findings of the patient's prostate-specific antigen test and the context in which it was performed.",
"Summarize the urinary symptoms reported by the patient and any scoring system used to... | [
"A 50 - year - old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostate Symptom Scor... |
CaseReportBench:train-541 | CaseReportBench | Neurology | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | [
"How is the overall development of the twins described in the case report?"
] | [
"normal development"
] |
CaseReportBench:train-339 | CaseReportBench | Age-at-Presentation | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | [
"What age group does the patient fall into at presentation?"
] | [
"25 - year - old"
] |
CaseReportBench:train-601 | CaseReportBench | Patient-History | {'Case': "A 21-year-old woman was admitted to the hospital for a seizure-like episode lasting for approximately five minutes and subsiding spontaneously. The patient had frequent and insidious onset of seizure-like episodes, dysarthria, gait disturbance and a right-sided visual field defect that had started four years ... | [
"Describe the nature of the patient's episodic neurological events, including any associated motor or visual symptoms, and indicate the approximate time course of these events.",
"List any prior diagnoses of essential hypertension, diabetes mellitus, or dyslipidemia in the patient's medical history."
] | [
"frequent and insidious onset of seizure - like episodes, dysarthria, gait disturbance and a right - sided visual field defect that had started four years ago without any history of essential hypertension, diabetes mellitus and dyslipidemia."
] |
CaseReportBench:train-550 | CaseReportBench | Vitals-and-Hematology | {'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium... | [
"What types of laboratory tests were obtained for the patients to assess blood and metabolic parameters?",
"Were any gum-related symptoms observed in the patients?"
] | [
"Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits",
"bleeding gums."
] |
CaseReportBench:train-143 | CaseReportBench | Pregnancy | {'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra... | [
"What was the gestational term at birth and the birth weight of the patient?"
] | [
"He was born at term, weighing 2,900 g,"
] |
CaseReportBench:train-218 | CaseReportBench | Neurology | {'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... | [
"What psychiatric symptoms (e.g., delusions, hallucinations, impulsivity, emotional instability) prompted the patient's admission to the acute psychiatric ward?",
"Which cerebellar signs were observed in adulthood and what intellectual or learning difficulties were reported from childhood?",
"What psychiatric d... | [
"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... |
CaseReportBench:train-66 | CaseReportBench | Cardiovascular-System | {'CASE REPORT': 'A 17-year-old Venezuelan male with a 5-year past medical history of bilateral ptosis came for his regular ophthalmic and general health checkup (Fig. 1 ). He had diplopia, decreased visual acuity and nyctalopia. He was diagnosed with diplopia by a general practitioner 5 years ago since then the patient... | [
"Which diagnostic tests, including imaging and laboratory assessments, were reported as normal in the evaluation of the patient?",
"What specific abnormalities were identified on the patient's electrocardiogram?",
"What findings did Holter monitoring reveal?",
"What overall cardiac conduction defects were not... | [
"echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal",
"EKG, which unveiled complete right branch block, and a left anterior hemiblock",
"The Holter monitor recorded supraventric... |
CaseReportBench:train-475 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made p... | [
"What renal condition is reported for the patient, and how is its severity described?"
] | [
"with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease ( CKD )"
] |
CaseReportBench:train-272 | CaseReportBench | IEM-Treatment | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | [
"What cysteamine formulation (immediate‑release) and dosing have the twins been on since their diagnosis?",
"What cysteamine delayed‑release regimen is currently prescribed for each twin?",
"Which cysteamine eye‑drop preparation are the twins using, and what is its intended purpose?",
"Provide details of the ... | [
"They were on cysteamine bitartrate ( cystagon - immediate release ) since diagnosis . Each was currently prescribed Procysbi ( cysteamine - delayed release ) 675 mg every 12 hours . In addition , each twin was prescribed cysteamine hydrochloride ( 0.44 % ) eye drops due to cystine crystal accumulation in the lens ... |
CaseReportBench:train-185 | CaseReportBench | Age-at-Presentation | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | [
"What age group does the patient belong to at the time of initial presentation?"
] | [
"21 - year - old"
] |
CaseReportBench:train-206 | CaseReportBench | Gastrointestinal-System | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | [
"What gastrointestinal symptoms were reported in the patients' clinical presentation?"
] | [
"diarrhea"
] |
CaseReportBench:train-499 | CaseReportBench | Pregnancy | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | [
"What were the key characteristics of the delivery, including timing and method?"
] | [
"was born at full - term by Cesarean section"
] |
CaseReportBench:train-155 | CaseReportBench | Laboratory-and-Imaging | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | [
"What were the laboratory findings, including plasma glucose level, white blood cell count, electrolyte status, and results of infectious agent testing?",
"What abnormalities were identified on the initial brain MRI, detailing the regions involved, signal changes on T2-weighted, FLAIR, DWI, ADC maps, and SWI, and... | [
"Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg / dl and white blood cell ( WBC ) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies",
"T2 - weighted and fluid attenuated i... |
CaseReportBench:train-165 | CaseReportBench | IEM-Treatment | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | [
"Which therapy was initiated as first‑line treatment for Gaucher disease type 1 during the Cerezyme® supply shortage, and what dosage and administration schedule were used?",
"Why was miglustat selected as the first‑line treatment for Gaucher disease type 1 at that time?",
"After the Cerezyme® supply shortage e... | [
"miglustat , which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme ® during 2009–2010 ( 9 ) . He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally .",
"After the Cerezyme ® supply shortage had ceased , t... |
CaseReportBench:train-404 | CaseReportBench | Laboratory-and-Imaging | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | [
"What did the recent testicular ultrasound reveal about TART volume and what did the initial semen analysis show regarding sperm presence?",
"What general abnormalities were observed in the 0800 pre‑medication biochemical profile, and how does the A4/T ratio inform the likely source of testosterone?",
"What ove... | [
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ), and semen analysis showed azoospermia.",
"Biochemical evaluation at 0800 before medication showed 17 - hydroxyprogesterone 13,060 ng / dL ( reference : 13 to 1... |
CaseReportBench:train-366 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | [
"What is the confirmed inborn error of metabolism diagnosed in the patient?",
"Which specific type of porphyria is identified as the underlying disorder?",
"What primary metabolic disease is responsible for the patient's clinical presentation?",
"What diagnosis is supported by the elevated porphyrin derivativ... | [
"AIP"
] |
CaseReportBench:train-270 | CaseReportBench | Age-of-Onset | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | [
"What age range is commonly reported for the initial appearance of blisters in pediatric patients similar to the 13‑year‑old case?",
"At what age do children typically first develop blisters on exposed areas, as seen in early‑onset cases?"
] | [
"4–5 years",
"around 6 months"
] |
CaseReportBench:train-17 | CaseReportBench | Vitals-and-Hematology | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | [
"What anthropometric measurements are reported for the patient?"
] | [
"Her height was 154 cm, weight 48 kg"
] |
CaseReportBench:train-365 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | [
"What was the confirmed diagnosis, and what potential underlying condition was suggested?"
] | [
"confirmed the diagnosis of neonatal hemochromatosis ( NH ; likely due to gestational alloimmune liver disease , GALD ) ."
] |
CaseReportBench:train-551 | CaseReportBench | Age-at-Presentation | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | [
"What age group does the patient fall into at presentation?"
] | [
"63 - year - old"
] |
CaseReportBench:train-30 | CaseReportBench | Gastrointestinal-System | {'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... | [
"What abdominal symptoms did the patient report, including the nature of the pain and any changes in stool habits?",
"Which gastrointestinal symptoms were absent in the patient (e.g., abdominal distention, nausea, vomiting, constipation, diarrhea)?",
"What findings were noted on physical examination of the abdo... | [
"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"
... |
CaseReportBench:train-391 | CaseReportBench | Eyes-Ears-Nose-Throat | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | [
"What oral complaint did the patient report when first seen at the clinic?",
"What abnormality was identified at the periapical area of the primary maxillary left lateral incisor, and were caries or trauma involved?",
"How was the overall condition of the patient's primary dentition described, particularly rega... | [
"small ball that appeared in the mouth",
"fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma",
"complete primary dentition and none of the teeth examined showed evidence of caries"
] |
CaseReportBench:train-316 | CaseReportBench | Neurology | {'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... | [
"What seizure‑related diagnoses are reported for the patient?"
] | [
"epilepsy"
] |
CaseReportBench:train-105 | CaseReportBench | Dermatology | {'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... | [
"What skin condition was observed in the physical examinations of the patients?"
] | [
"acne",
"acne"
] |
CaseReportBench:train-613 | CaseReportBench | Respiratory-System | {'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing he... | [
"How did the subcutaneous masses impact the patient’s respiratory function and sleep quality?",
"In what ways did the identified tissue abnormality affect the patient’s breathing and nighttime rest?",
"What types of respiratory or sleep disturbances were associated with the masses in the neck and back region?"
... | [
"these painful masses, which were obstructing her ability to breath and sleep"
] |
CaseReportBench:train-421 | CaseReportBench | Dermatology | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | [
"What skin condition is described in the case report?",
"How are the skin lesions characterized, including their appearance, distribution, severity of itching, and age of onset?"
] | [
"skin ailment",
"scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face"
] |
CaseReportBench:train-141 | CaseReportBench | Patient-History | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | [
"What demographic details and main dermatologic finding are reported for the patient?",
"When did the skin manifestations begin, and when did the dental loss become evident in the patient’s history?",
"What familial and genetic information is provided, including parental relationship and the health status of si... | [
"A 19 - year - old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents ( cousins ). Her older brother also suffered from PLS... |
CaseReportBench:train-314 | CaseReportBench | Confirmed-Diagnosis-IEM | {'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... | [
"Based on the clinical, laboratory, and histopathological findings, what general type of condition was concluded for the patient?"
] | [
"we made the diagnosis of H syndrome"
] |
CaseReportBench:train-71 | CaseReportBench | Laboratory-and-Imaging | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | [
"What were the results of the head CT, cerebrospinal fluid analysis (including PCR for HSV, VZV, Lyme disease, and Cryptococcus), and what did the initial brain MRI show?",
"What were the measured levels and reference ranges for urine PBG, serum porphyrin, fecal coproporphyrin, and fecal protoporphyrin?",
"How ... | [
"Head CT was normal, cerebral spinal fluid ( CSF ) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus. The brain MRI showed PRES",
"Urine, then serum and fecal porphyrins were requested. The results were as... |
CaseReportBench:train-578 | CaseReportBench | Genitourinary-System | {'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... | [
"What preexisting gynecologic and urinary conditions did the patient have?",
"What serum sodium concentration was reported, and what electrolyte abnormality does this represent?",
"What were the results of the urine analysis and reflex culture, specifically regarding leukocyte esterase, nitrites, urine osmolali... | [
"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... |
CaseReportBench:train-76 | CaseReportBench | Confirmed-Diagnosis-IEM | {'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... | [
"What is the confirmed diagnosis for the patient?"
] | [
"diagnosis of CTX ."
] |
CaseReportBench:train-256 | CaseReportBench | Laboratory-and-Imaging | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | [
"Did the urine analysis detect porphobilinogen?",
"Was any mutation identified in the HMBS gene?",
"What were the findings of the routine laboratory tests (CBC, renal and liver function, AST, ALT, and serum sodium) on admission and up to postoperative day 5?",
"What did the abdominal plain X‑ray and computed ... | [
"positive urine test for porphobilinogen",
"presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene ( c.760delC p Leu254 )",
"Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspart... |
CaseReportBench:train-338 | CaseReportBench | Neurology | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | [
"What neurodevelopmental or cognitive impairments were reported in any of the patients?"
] | [
"mental retardation"
] |
CaseReportBench:train-517 | CaseReportBench | Dermatology | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | [
"How are the hypo‑ and hyperpigmented lesions described regarding symptom presence (e.g., asymptomatic) and anatomical distribution (e.g., whole body, extremities, acral areas)?",
"For the case(s) where the initial lesion site and progression timeline are reported, what is the initial location and over what perio... | [
"asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body",
"initial lesions started in the chest and then spread to the entire body in 2 years",
"no history of photosensitivity",
"skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within n... |
CaseReportBench:train-52 | CaseReportBench | Age-at-Presentation | {'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... | [
"What is the patient's age in years at the time of presentation?"
] | [
"12 - year - old"
] |
CaseReportBench:train-518 | CaseReportBench | IEM-Treatment | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | [
"For each case, at what point relative to the CTX diagnosis was chenodiol (chenodeoxycholic acid) therapy initiated?",
"For each case, describe whether the patient has taken chenodiol continuously since initiation, including any interruptions and their durations."
] | [
"prompt initiation of chenodiol therapy . She has been on chenodiol consistently since the diagnosis at age 27 .",
"She started chenodiol at the time of the diagnosis",
"Chenodiol ( chenodeoxycholic acid ) therapy was initiated at diagnosis , and she has remained on chenodiol since that time"
] |
CaseReportBench:train-608 | CaseReportBench | Endocrinology | {'Case report': 'SH is a 44-year-old female diagnosed with mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) at age 32 after suffering a fall at her job that was thought to be secondary to a seizure. After her diagnosis was made, she was initially followed by Neurology; however she was subsequentl... | [
"What does the document state regarding the presence or absence of hyperglycemia or diabetes in the patient?"
] | [
"no hyperglycemia."
] |
CaseReportBench:train-448 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | [
"At what age was each patient diagnosed with pseudoxanthoma elasticum (PXE)?"
] | [
"diagnosed with PXE at 18 years of age .",
"diagnosed with PXE at 20 years of age",
"was diagnosed with PXE at 8 years of age .",
"diagnosed with PXE at 41 years of age ."
] |
CaseReportBench:train-298 | CaseReportBench | Genitourinary-System | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | [
"What acute kidney infection was diagnosed in the patient during admission?"
] | [
"acute pyelonephritis,"
] |
CaseReportBench:train-423 | CaseReportBench | Laboratory-and-Imaging | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | [
"What electrolyte levels (sodium and potassium) were reported in the patient's laboratory tests?",
"How did the patient's adrenal hormone production and ACTH concentration compare to normal expectations?",
"What did imaging studies (CT, ultrasonography, MRI) reveal about the adrenal glands and the location of t... | [
"Laboratory tests revealed severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq / L ).",
"Not only mineralocorticoids and glucocorticoids, but also adrenal androgens and their metabolic products were barely detectable. On the other hand, concentrations of adrenocorticotropic hormone were extremely high,... |
CaseReportBench:train-293 | CaseReportBench | Laboratory-and-Imaging | {'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted... | [
"What laboratory results demonstrated significant metabolic acidosis and low serum bicarbonate in the patient?",
"What laboratory abnormalities were noted in the patient's glucose, carnitine, and muscle enzyme measurements?",
"How many admissions did the patient have for ketotic hypoglycemia and severe lactic a... | [
"significant metabolic acidosis with low serum bicarbonate concentrations",
"low serum glucose of 3.05 mmol / L ( 55 mg / dL ) and very low plasma l -carnitine ( total carnitine:7 μmol / L, reference range : 25–69 ). Serum creatine phosphokinase ( CK ) and transaminases were elevated and continued to increase ... |
CaseReportBench:train-282 | CaseReportBench | Gastrointestinal-System | {'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomitin... | [
"What gastrointestinal and hepatic symptoms were present at the infant’s initial presentation?",
"How did the infant’s feeding behavior and weight change during the early course of illness?",
"What stool characteristics were reported by the parents and how did they evolve before admission?",
"How did the infa... | [
"cholestasis and severe intractable vomiting",
"jaundice and vomiting",
"recurrent vomiting, poor feeding and cholestasis",
"with recurrent vomiting and poor intake which led to poor weight gain.",
"Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days ... |
CaseReportBench:train-113 | CaseReportBench | Genitourinary-System | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | [
"What urine-related abnormalities are noted for the patient?",
"What gynecologic findings are described for the patient?",
"What electrolyte disturbances are documented in the patient's laboratory results?"
] | [
"dark colour of urine",
"frequent urination, blood in the urine",
"irregular menstrual cycles",
"pronounced hyponatremia, hypokalemia, hypomagnesemia, and hypocalcaemia",
"dark colour of urine"
] |
CaseReportBench:train-285 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | [
"What ocular symptoms did the patient experience, including changes in eyelid position and vision in low light?",
"What findings were observed on ophthalmic examination, including any abnormalities of eye movement or the retina?",
"What did the fundoscopic examination reveal about the peripheral retina?"
] | [
"progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina",
"Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina"
] |
CaseReportBench:train-523 | CaseReportBench | Neurology | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | [
"Describe the developmental history reported for the patient.",
"What findings were documented from the neurological examination?",
"What does the case report indicate about any neurological involvement?",
"Were any abnormal findings observed when a Wood's lamp was used to examine the patient's urine, teeth, ... | [
"developmental history were normal.",
"Neurological examination was normal.",
"without neurological involvement",
"Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp"
] |
CaseReportBench:train-48 | CaseReportBench | Pregnancy | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | [
"What information is provided about the timing and method of delivery?"
] | [
"full term normal vaginal delivery"
] |
CaseReportBench:train-311 | CaseReportBench | Patient-History | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | [
"What are the patient’s age, gender, and parental background (e.g., primigravida mother, consanguinity status)?",
"At what age did the recurrent skin blisters first appear and which body sites were initially involved?",
"How did the distribution of the blisters evolve over time, and what stages of healing were ... | [
"An eleven month old female child, born of a primigravida mother of non - consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also not... |
CaseReportBench:train-597 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | [
"What is the confirmed diagnosis of the infant?",
"Is an enzyme deficiency implicated in the diagnosed condition?",
"Was a genetic mutation identified to confirm the diagnosis?",
"Was a confirmatory test performed to establish the diagnosis?"
] | [
"A diagnosis of CAH secondary to 21 - hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies ."
] |
CaseReportBench:train-473 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | [
"What findings were observed on ophthalmologic examination, specifically regarding retinal appearance and optic nerve status?",
"What visual or light‑response abnormalities, if any, were noted during the neurological assessment?"
] | [
"no further optical problems or responsiveness to light.",
"cherry - red spot without optic atrophy"
] |
CaseReportBench:train-440 | CaseReportBench | Laboratory-and-Imaging | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | [
"What cardiac abnormality was identified on echocardiography?",
"What findings were reported from the voiding cystourethrography, spine ultrasound, and clinical assessment for tracheoesophageal fistula?",
"What were the results of the initial laboratory tests, neonatal metabolic screening (including 17‑alpha‑hy... | [
"echocardiography revealed a patent ductus arteriosus",
"Bilateral grade 3 vesicoureteral reflux ( VUR ) was revealed via voiding cystourethrography. Spine ultrasound revealed no vertebral anomalies, and tracheoesophageal fistula was not suspected clinically",
"Laboratory test results, including electrolyte lev... |
CaseReportBench:train-417 | CaseReportBench | Pregnancy | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | [
"At what gestational age was the patient evaluated, and which obstetric complication(s) were present at that time?",
"What pain symptom(s) did the patient report on initial examination?"
] | [
"8th week of gestation, due to initial spontaneous abortion, abdominal pain",
"8th week of gestation, due to initial spontaneous abortion, abdominal pain,"
] |
CaseReportBench:train-592 | CaseReportBench | Laboratory-and-Imaging | {'Case 2': "Four days after the development of fever, cough, and rhinorrhea, a 6-month-old, previously healthy girl was admitted with generalized tonic-clonic seizure and mental change, as well as increased rigidity of the extremities. CT images of the brain, obtained at another hospital, depicted symmetric low-density... | [
"What low‑density lesions were identified on CT, and in which brain regions were they located?",
"Describe the MRI signal characteristics of the lesions (T1, T2, T2* gradient‑echo, diffusion, ADC) and indicate whether gadolinium enhancement was present.",
"What abnormalities were reported on localized proton MR... | [
"symmetric low - density lesions in the thalami and external capsules",
"symmetric T1- and T2 - prolonged areas were present in the thalami and external capsules. T2 * -weighted gradient - echo images clearly showed that within the thalamic lesions, acute hemorrhage had occurred. After the intravenous administrat... |
CaseReportBench:train-537 | CaseReportBench | Patient-History | {'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and antero... | [
"What ocular and neck muscle abnormalities are described, and at what ages did each symptom first appear?",
"What family medical conditions are reported, and which relatives are affected?",
"Describe the circumstances of the patient's hospital admission, focusing on the nature of the respiratory dysfunction and... | [
"with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y.",
"The family history was positive for diab... |
CaseReportBench:train-372 | CaseReportBench | Patient-History | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | [
"What are the patient’s age, sex assigned at birth, primary clinical manifestations, and the healthcare setting where they were evaluated?",
"Describe the patient’s birth details, the relationship between the parents (e.g., consanguinity), and any information about siblings, including their sex phenotype and outc... | [
"An 11 - month - old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full - term by Cesarean section and was the second child of the nonconsanguineous parents. The patient 's older sibling was phenotypi... |
CaseReportBench:train-153 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The pat... | [
"What findings were observed on examination of the hard palate mucosa?",
"What abnormalities, if any, were identified during the ocular examination?"
] | [
"mucosa over the hard palate showed small, firm, yellowish - white plaques",
"Ocular examination did not reveal any abnormality"
] |
CaseReportBench:train-525 | CaseReportBench | Patient-History | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | [
"Describe the patient's birth circumstances, including gestational age, birth weight, and any immediate neonatal complications.",
"Summarize the patient's early developmental milestones and any delays observed before and after the first year of life.",
"What is the family medical history and the health status o... | [
"The patient was born at 36 +4 weeks ’ gestation with a birth weight of 2500 g. Three days after birth, he was hospitalized for several days due to transient hypoglycemia. His developmental milestones were unremarkable before 1 year of age. Following this, his developmental milestones became delayed, for example, t... |
CaseReportBench:train-109 | CaseReportBench | Patient-History | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | [
"What demographic information about the patient is provided in the case report?",
"What information is provided regarding the timing and circumstances of the patient's diagnosis of congenital adrenal hyperplasia?",
"What factors are mentioned as influencing the control of the patient's condition?",
"What phys... | [
"A 9 - year - old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour"
] |
CaseReportBench:train-367 | CaseReportBench | Vitals-and-Hematology | {'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi... | [
"What urinary discoloration did the patient report and for how long?",
"What abnormalities were noted in the patient's hematologic profile and related laboratory tests?",
"What did the abdominal ultrasound indicate about the spleen?"
] | [
"red colored urine for the past 1 year.",
"hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )",... |
CaseReportBench:train-443 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic asse... | [
"What category of prenatal diagnosis was made based on genetic testing?",
"What type of enzyme deficiency was implicated in the diagnosed condition?",
"What genetic findings supported the prenatal diagnosis?"
] | [
"prenatal diagnosis of CAH due to 21 - hydroxylase deficiency"
] |
CaseReportBench:train-142 | CaseReportBench | Dermatology | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | [
"Describe any hirsutism observed during the patient's physical examination.",
"What evidence of acanthosis nigricans was noted?",
"Detail the characteristics of any erythematous, scaly, guttate papules found on the patient's skin.",
"What Cushingoid features were reported?"
] | [
"hirsutism",
"Acanthosis nigricans was present in both axillae",
"erythematous, scaly, guttate papules on the lower abdominal skin",
"rather ambiguous buffalo hump; however, moon face or red stria was not present"
] |
CaseReportBench:train-252 | CaseReportBench | Patient-History | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | [
"Describe the patient's birth circumstances, parental relationship, birth weight, Apgar scores, and early developmental signs such as head lag and hypotonia.",
"What feeding and growth problems did the patient experience, including weight gain, swallowing dysfunction, and reflux disease?",
"When did the patient... | [
"This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia.",
"He had poor weight gain with swallowing dysfunction and significant reflux disease",
"He st... |
CaseReportBench:train-312 | CaseReportBench | IEM-Treatment | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | [
"What medication and supplement regimen is reported for the patient in the case description?"
] | [
"calcitriol and phosphate supplements"
] |
CaseReportBench:train-503 | CaseReportBench | Patient-History | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | [
"Can you describe the patient's demographic information, prenatal and perinatal background, and the main clinical concerns that led to admission?",
"What family history information is mentioned regarding parental relationships and the health of the patient's siblings?",
"When did the patient's neurological symp... | [
"An 18 - month - old boy born after an uncomplicated full - term pregnancy was hospitalized for psychomotor regression and drug - resistant myoclonic epilepsy.",
"There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The ot... |
CaseReportBench:train-326 | CaseReportBench | Neurology | {'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... | [
"What seizure types were observed in the patients, and was there any change in seizure pattern over time?",
"What were the findings of the initial brain MRI performed at the local hospital that led to a diagnosis of posterior reversible encephalopathy syndrome (PRES)?",
"How did the follow-up brain MRI obtained... | [
"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... |
CaseReportBench:train-79 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | [
"What genetic testing was conducted and what were its findings?",
"What overall imaging findings were reported in the case, encompassing ultrasound, MRI, and chest X‑ray results?",
"What laboratory investigations were performed and which results were reported as normal or abnormal?"
] | [
"Karyotyping showed 46XX pattern",
"Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X - ray were normal",
"Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone,... |
CaseReportBench:train-604 | CaseReportBench | Musculoskeletal-System | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | [
"What observations were noted about the patient's fingers during the examination?"
] | [
"The fingers were pointed giving clawed appearance"
] |
CaseReportBench:train-237 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Patient': 'The patient was the second child of nonconsanguineous parents who was born after an uneventful pregnancy of 42 weeks. At birth, early findings comprised congenital hypotonia, low facial expression, and inverted feet. He was diagnosed with swallowing problems and gastroesophageal reflux. Dysmorphic features... | [
"Which gene is implicated in the patient's diagnosis?"
] | [
"RYR1"
] |
CaseReportBench:train-47 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': "In 1986, a previously healthy 18-year-old male presented to our hospital with a 1-week history of fever, headache and vomiting. Meningism, but no focal neurological signs, was noted on examination. Lumbar puncture was performed, revealing slight elevation of protein in the cerebrospinal fluid (CSF) but... | [
"What were the protein and cell count findings in the patient's cerebrospinal fluid?",
"How did the T1/T2-weighted brain MRI describe the left occipital area?",
"What were the results of the herpes serology testing?",
"Which lactate measurement was not performed in the initial CSF analysis?",
"What abnormal... | [
"slight elevation of protein in the cerebrospinal fluid ( CSF ) but no increased cell count",
"Results of T1 / T2 - weighted brain magnetic resonance imaging were reported to be in keeping with an inflammatory process in the left occipital area.",
"herpes serology came back negative",
"In the initial CSF anal... |
CaseReportBench:train-173 | CaseReportBench | Neurology | {'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent... | [
"What is the patient's mental development status?"
] | [
"normal mental development,"
] |
CaseReportBench:train-376 | CaseReportBench | Vitals-and-Hematology | {'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra... | [
"What are the patient's height, weight, body mass index (BMI), and blood pressure measurements as reported in the case?"
] | [
"height of 158 cm ( – 1 SD ), weight of 85 kg ( > 2 SD ), body mass index ( BMI ) of 34.13 kg / m 2 ( greater than the 97th centile ) and blood pressure of 150/80 mmHg."
] |
CaseReportBench:train-112 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | [
"What is the confirmed metabolic diagnosis identified in this patient?",
"Which specific type of porphyria does the case conclude the patient has?",
"Based on the laboratory findings, what acute porphyria was diagnosed?",
"What inborn error of metabolism is responsible for the patient's presentation?",
"Wha... | [
"AIP"
] |
CaseReportBench:train-569 | CaseReportBench | Age-of-Onset | {'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy... | [
"At what age was the patient first diagnosed with 21‑hydroxylase deficient congenital adrenal hyperplasia?"
] | [
"eleven years old"
] |
CaseReportBench:train-229 | CaseReportBench | Age-of-Onset | {'Case Report': "The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes... | [
"At what age did the proband first experience visual and gait disturbances?"
] | [
"10 years of age"
] |
CaseReportBench:train-589 | CaseReportBench | Age-at-Presentation | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | [
"What was the patient's age at the time of presentation?"
] | [
"3 - year - old"
] |
CaseReportBench:train-196 | CaseReportBench | Patient-History | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | [
"What demographic information is provided for the patient?",
"What details are given about the patient’s place of origin?",
"What is reported regarding the parental relationship in terms of consanguinity?",
"What gastrointestinal symptoms are mentioned, and what is known about their onset or duration?"
] | [
"An 8 - year - old girl of non - consanguineous parents from southern China with history of recurrent abdominal pain and vomiting since 4 years of age presented to the gastroenterology department"
] |
CaseReportBench:train-402 | CaseReportBench | Neurology | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | [
"What symptom did the patient report that involves pain in the head?"
] | [
"headache."
] |
CaseReportBench:train-54 | CaseReportBench | Cardiovascular-System | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | [
"What type of cardiac tumor was identified, and was any coronary artery reported as being involved?",
"What symptoms and blood‑pressure abnormalities prompted investigation for secondary hypertension in this young patient?",
"What were the findings of ambulatory blood‑pressure monitoring, which general class of... | [
"cardiac paraganglioma with left coronary artery involvement.",
"recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension",
"Ambulatory blood pressure monitoring found severe hyp... |
CaseReportBench:train-433 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case Report': "The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes... | [
"What diagnostic term is used to describe the proband's condition in the case report?",
"How does the report characterize the coexistence of optic neuropathy and cerebellar abnormalities?"
] | [
"LHON plus olivocerebellar degeneration"
] |
CaseReportBench:train-545 | CaseReportBench | Genitourinary-System | {'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other ... | [
"What prior gynecologic condition was documented in the patient's medical history?",
"What findings did the bedside transvaginal ultrasound report concerning the ovaries?",
"In which phase of her menstrual cycle was the patient when she presented with symptoms?",
"What electrolyte abnormality and serum creati... | [
"ruptured ovarian cyst,",
"A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"was in the luteal phase of her menstrual cycle",
"hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), and an elevated creatinine 1.14 mg / dl ( baseline arou... |
CaseReportBench:train-403 | CaseReportBench | Age-at-Presentation | {'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted... | [
"At what age did the patient first present with symptoms?"
] | [
"The patient presented at age seven years"
] |
CaseReportBench:train-178 | CaseReportBench | Endocrinology | {'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also... | [
"Can you describe the patient's menarche timing and overall menstrual pattern?"
] | [
"menarche at 12 years of age with regular menstrual cycles"
] |
CaseReportBench:train-307 | CaseReportBench | Dermatology | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | [
"What observations of increased skin pigmentation are described in the case report?",
"What mentions of skin discoloration or pigmentation abnormalities are reported?"
] | [
"hyperpigmentation",
"skin hyperpigmentation"
] |
CaseReportBench:train-577 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | [
"What diagnoses were established for each of the cases described in the report?",
"Which diagnosis was assigned to the fifth patient, and how does it differ from the diagnosis given to the first four patients?"
] | [
"a diagnosis of dyschromatosis universalis hereditaria ( DUH ) was made",
"diagnosis of DUH was made in all the four cases .",
"a diagnosis of dyschromatosis symmetrica hereditaria was made"
] |
CaseReportBench:train-547 | CaseReportBench | Endocrinology | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | [
"What metabolic or cardiovascular comorbidities (e.g., diabetes mellitus, hypertension) are reported for the patient?",
"What signs of early sexual development, such as precocious puberty, pubarche, or hirsutism, are described in the patient’s history?",
"What cutaneous and body habitus findings were observed o... | [
"neither diabetes mellitus",
"precocious puberty",
"Acanthosis nigricans was present in both axillae,",
"central obesity",
"rather ambiguous buffalo hump; however, moon face or red stria was not present",
"4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal ... |
CaseReportBench:train-86 | CaseReportBench | Vitals-and-Hematology | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | [
"What were the infant's anthropometric measurements at admission, and how did they compare to expected growth percentiles?",
"What were the infant's initial hematology laboratory results, including white blood cell count, hemoglobin, and platelet levels?",
"What coagulation abnormalities were reported, such as ... | [
"Coagulopathy was also detected",
"height was 42 cm ( < 3rd percentile ), her weight was 2.9 kg ( < 3rd percentile ), and her head circumference was 33.5 cm ( < 3rd percentile",
"white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g / dL and a thrombocyte count of 93,000/µL.",
"The prothrombin tim... |
CaseReportBench:train-369 | CaseReportBench | Laboratory-and-Imaging | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | [
"What histopathological changes were observed in the dermis?",
"What were the findings reported for the electrocardiogram in the cardiovascular assessment?",
"What were the findings reported for the echocardiogram in the cardiovascular assessment?"
] | [
"The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers",
"echocardiogram were normal.",
"The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis",
"normal electrocardiogram and echo... |
CaseReportBench:train-69 | CaseReportBench | Vitals-and-Hematology | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | [
"What were the patient's weight and height as documented in the clinical examination?",
"What was the patient's resting pulse rate recorded during the assessment?"
] | [
"he weighed 38 kg and his height was 148 cm",
"pulse rate was 47 / minute"
] |
CaseReportBench:train-380 | CaseReportBench | Dermatology | {'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The pat... | [
"What is the duration, onset pattern, and initial texture change of the pigmented skin lesions on the neck and abdomen?",
"Describe the distribution, color, morphology, and associated skin texture (e.g., softness, laxity, wrinkling, keratotic features) of the papules on the neck and periumbilical area.",
"What ... | [
"pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture,",
"multiple brownish - black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over ... |
CaseReportBench:train-415 | CaseReportBench | Musculoskeletal-System | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | [
"How is the patient's stature described in the document (e.g., short, tall, average), without providing exact measurements?"
] | [
"short stature"
] |
CaseReportBench:train-587 | CaseReportBench | Confirmed-Diagnosis-IEM | {'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent... | [
"What definitive diagnosis was established for the patient after hair and nail analysis?",
"Which condition was confirmed by the neutron activation analysis of the patient’s hair and nails?",
"What disease was identified as the underlying cause of the patient’s symptoms based on the arsenic level findings?",
... | [
"chronic arsenicosis"
] |
CaseReportBench:train-491 | CaseReportBench | Confirmed-Diagnosis-IEM | {'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... | [
"Which categories of investigations (e.g., histological, immunohistochemical, molecular) were cited as supporting the case?",
"Which types of diagnostic examinations were mentioned as contributing to establishing the diagnosis (such as histology, IHC, or molecular analysis) without requiring detailed findings?"
] | [
"H Syndrome was diagnosed based on histological , immunohistochemical ( IHC ) examination and molecular analysis ."
] |
CaseReportBench:train-248 | CaseReportBench | Laboratory-and-Imaging | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | [
"What findings were reported on computed tomography regarding the abdominal aortic aneurysm?",
"What findings were observed on coronary angiography regarding coronary atherosclerotic lesions?",
"What information was provided about the patient's LDL cholesterol level?",
"What genetic abnormality was reported i... | [
"Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm",
"Coronary angiography revealed mild to moderate coronary atherosclerotic lesions",
"modestly elevated LDL cholesterol level ( 166 mg / dL )",
"homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP... |
CaseReportBench:train-132 | CaseReportBench | Cardiovascular-System | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | [
"What cholesterol‑related or dyslipidemia diagnoses are mentioned in the patient's past medical history?"
] | [
"hypertension and hypercholesterolemia"
] |
CaseReportBench:train-584 | CaseReportBench | Laboratory-and-Imaging | {'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other ... | [
"Provide a concise summary of the pelvic imaging results (pelvic examinations, CT scans, and transvaginal ultrasound), indicating which studies were unremarkable and any specific findings such as cysts.",
"What did the small bowel follow‑through study reveal?",
"What were the initial serum potassium and creatin... | [
"Multiple pelvic examinations and 3 computerized tomography ( CT ) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"initial laboratory studies showed hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), ... |
CaseReportBench:train-267 | CaseReportBench | Laboratory-and-Imaging | {'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangio... | [
"What was the urinary postprandial blood glucose level and its normal reference range?",
"What abnormalities were described on the plain abdominal X‑ray and what did the abdominal ultrasound show regarding the colon, fecal impaction, liver, spleen, pancreas, transplanted kidney, and the left nephrectomy site?",
... | [
"His urinary postprandial blood glucose level was 60 mg/24 h ( normal, < 2 mg/24 h",
"Plain X - rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephre... |
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