CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports
Paper • 2505.17265 • Published • 1
pmcid string | text string | Vitals_Hema sequence | GI sequence | History sequence | Neuro sequence | Lab_Image sequence | CVS sequence | ENDO sequence | GU sequence | RESP sequence | MSK sequence | EENT sequence | DERM sequence | Pregnancy sequence | LYMPH sequence | Age (at case presentation) sequence | Age (of onset) sequence | Confirmed_Diagnosis(IEM) sequence | IEM_Treatment sequence |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2876866 | {'Case Report': "A 23 year-old female patient, 160 cm tall and 48 kg, was diagnosed with acute appendicitis and admitted for a laparoscopic appendectomy. She had no abnormalities in her pediatric medical history, but from the age 18, she had slowly begun experiencing headaches in her left temporal lobe, nausea, and vom... | [
"blood pressure 115/65 mmHg, heart rate 100 beats / min, oxygen saturation rate 97 %",
"blood pressure at 120 - 140/60 - 80 mmHg, heart rate 80 - 100 beats / min, oxygen saturation 100 %, body temperature 37.0 - 37.4 ℃"
] | [
"acute appendicitis",
"nausea, and vomiting"
] | [
"laparoscopic appendectomy",
"no abnormalities in her pediatric medical history",
"Type I DM"
] | [
"headaches in her left temporal lobe",
"generalized convulsions and aphasia",
"In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found.",
"patient was able to read but had auditory aphasia such that she could not understand spoken words",
"no signs of hy... | [
"In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found. Also, in a blood test, an increase in lactic acid was discovered ( 7.54 mM / L ).",
"adenosine - to - guanine transition at t - RNA nucleotide 3243 in PCR sequencing",
"The laboratory results showed h... | [
"In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found.",
"There were no abnormal findings in the chest X - ray and electrocardiogram. One year prior to her admission to the hospital, she had an ECG that revealed a cardiac index of 67 % and no abnormal findi... | [
"Type I DM.",
"hyperglycemia ( 257 mg / dl ),",
"her blood sugar was 176 mg / dl.",
"her blood sugar level was 120 mg / dl."
] | [] | [] | [] | [] | [] | [] | [] | [
"23 year - old"
] | [
"age 18"
] | [
"MELAS syndrome"
] | [] |
2698060 | {'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... | [] | [
"slightly increased levels of serum aspartate aminotransferase,",
"vomiting, and diarrhea",
"increased serum aspartate and alanine aminotransferase levels,"
] | [
"previously healthy girl",
"Two months earlier, the patient 's elder sister had died of acute encephalopathy",
"previously healthy"
] | [
"generalized tonic - clonic seizure and mental change, as well as increased rigidity of the extremities",
"generalized tonic - clonic seizure.",
"drowsy and showed decerebrate rigidity, without focal neurologic signs",
"His mental state improved, and on the fourth day of hospitalization he was almost alert. C... | [
"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... | [] | [] | [] | [
"cough, and rhinorrhea,"
] | [] | [] | [] | [] | [] | [
"6 - month - old",
"10 - month - old"
] | [
"6 - month - old",
"10 - month - old"
] | [] | [] |
3098999 | {'Patient 2': 'The elder sister of patient 1 was an 84-year-old woman with a stooping posture presenting with tremors since the age of 60. In her 70s she started walking with the aid of a walking stick. At 82 years of age, she was hospitalized for generalized seizures and disturbed consciousness. CT of T10 revealed sev... | [] | [] | [
"she died at the age of 84",
"CK levels in all her four sons were found to be elevated and her third son was diagnosed with epilepsy",
"She and her fourth son had also been previously diagnosed with Hashimoto thyroiditis ( Fig. 1 )",
"hypothyroidism",
"family history of bent spine, i.e., in her elder sister... | [
"presenting with tremors since the age of 60",
"she started walking with the aid of a walking stick",
"At 82 years of age, she was hospitalized for generalized seizures and disturbed consciousness",
"Brain MRI revealed hyperintense lesions around the white matter ( Fig. 2 f );",
"gait disturbance.",
"she ... | [
"CT of T10 revealed severe atrophy and fatty degeneration of the paraspinal muscles ( Fig. 2 e ). Brain MRI revealed hyperintense lesions around the white matter ( Fig. 2 f ); elevated serum and CSF lactate levels were also noted at this time. The mitochondrial DNA analysis of the lymphocytes did not indicate MELAS... | [
"Holter monitoring revealed high - frequency premature contractions."
] | [
"She and her fourth son had also been previously diagnosed with Hashimoto thyroiditis ( Fig. 1 ).",
"hypothyroidism",
"thyroid - stimulating hormone levels were slightly low at 0.47 μIU / ml ( normal range 0.5–5.0 μIU / ml ).",
"Under the administration of 50 μg / day levothyroxine; antithyroglobulin antibody... | [] | [] | [
"with a stooping posture",
"she started walking with the aid of a walking stick",
"abnormal posture and gait disturbance",
"slight stooping posture and a pushed - out waist",
"she started using a walking stick because of her unstable gait.",
"gradually became more difficult for her to climb the stairs",
... | [
"bilateral cataracts, and hearing loss",
"eye movements were normal",
"Pure - tone audiometry indicated sensorineural and high - frequency hearing loss."
] | [] | [] | [] | [
"84 - year - old",
"73 - year - old"
] | [
"age of 60",
"age of 63"
] | [] | [] |
3757256 | {'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... | [] | [
"swallowing problems and gastroesophageal reflux"
] | [
"second child of nonconsanguineous parents who was born after an uneventful pregnancy of 42 weeks",
"positive family history of minicore myopathy ( his sister died with this condition at age 5 due to aspiration )",
"The parents were heterozygous carriers ( Wortmann et al. 2009 )"
] | [
"congenital hypotonia, low facial expression, and inverted feet.",
"facies myopathica",
"the boy could not sit up, raise his arms above the level of the hips, hold a pen, or stand due to his severe, generalized muscle weakness and contractures. Further physical signs were bilateral ptosis, facies myopathica wit... | [
"chronic lactic acidemia ( lactate 2.3–4 mmol / l, C : < 2.1 mmol / l ), 3 - methylglutaconic aciduria ( 80 μmol / l, C : < 18 μmol / mmol creatinine ), and recurrent hypoglycemic episodes. Serum alanine levels ( 610 μmol / l, C : < 450 μmol / l ) and creatine kinase ( CK ) levels ( 500–800 U / l, C : 180 U / l ) w... | [] | [
"recurrent hypoglycemic episodes."
] | [] | [] | [
"congenital hypotonia, low facial expression, and inverted feet.",
"swallowing problems",
"hyperlaxity with arachnodactyly",
"initial histological findings suggested a possible multi / minicore disease",
"creatine kinase ( CK ) levels ( 500–800 U / l, C : 180 U / l ) were moderately increased",
"No motor ... | [
"low - set ears, hypermetropia"
] | [
"Dysmorphic features included brachyturricephaly, facies myopathica"
] | [
"born after an uneventful pregnancy of 42 weeks"
] | [] | [
"At birth"
] | [] | [
"RYR1"
] | [] |
3469805 | {'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... | [] | [] | [
"The patient 's mother ( II-2 ) and uncle ( II-3 ) also had optic neuropathy, but other neurological abnormalities such as ataxia and dystonia were not observed. The patient 's mother has a history of subarachnoid hemorrhage. MRI of his mother disclosed mild atrophy of the optic nerve ( Fig. 2E ), pons, and cerebel... | [
"gait disturbances",
"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 in the bilateral inferior olivary nucleus",
"severe dizziness and double vision",
"gait disturbances",
... | [
"Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus",
"Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.",
"Blood and cerebrospinal fluid analyses... | [] | [] | [] | [] | [] | [
"visual and gait disturbances",
"horizontal gaze palsy, gaze - evoked nystagmus",
"atrophy of the optic nerve",
"severe dizziness and double vision",
"visual and gait disturbances",
"bilateral exotropia, double vision, incomplete horizontal movement of the eyes to the bilateral side, horizontal, and verti... | [] | [] | [] | [
"37 - year - old"
] | [
"10 years of age"
] | [
"LHON plus olivocerebellar degeneration"
] | [] |
3629250 | {'Case': "A 27-year-old female was admitted to the hospital because of left hemiplegia and aphasia. She was 162 centimeters tall and 30 kilograms in weight. She was born after a normal pregnancy and delivery. There was no family history of neurological diseases. Motor and intellectual development was normally attained ... | [
"162 centimeters tall and 30 kilograms in weight.",
"Her vital signs were stable"
] | [] | [
"no family history of neurological diseases",
"Motor and intellectual development was normally attained during infancy.",
"hospitalized for general muscle weakness and gait disturbance when she was 6 years old.",
"24 years old she had sudden syncope",
"when the patient was 26, she had another stroke"
] | [
"left hemiplegia and aphasia",
"Motor and intellectual development was normally attained during infancy",
"general muscle weakness and gait disturbance",
"decreased muscle tone and strength, and atrophic muscle mass",
"sudden syncope",
"An magnetic resonance imaging ( MRI ) revealed acute infarction of th... | [
"The biopsy showed mitochondrial myopathy of the pleoconial type",
"Her first echocardiography was completed afterwards and showed marked hypertrophy of both ventricles without any regional wall problems.",
"An magnetic resonance imaging ( MRI ) revealed acute infarction of the left basal ganglia and the left f... | [
"Her first echocardiography was completed afterwards and showed marked hypertrophy of both ventricles without any regional wall problems.",
"no specific findings in chest X - rays or electrocardiography",
"An magnetic resonance angiography showed an occluded right distal internal carotid artery and right middle... | [] | [] | [] | [
"general muscle weakness and gait disturbance",
"decreased muscle tone and strength, and atrophic muscle mass.",
"consistent muscle weakness",
"mitochondrial myopathy of the pleoconial type"
] | [] | [] | [
"She was born after a normal pregnancy and delivery."
] | [] | [
"27 - year - old"
] | [] | [
"MELAS syndrome"
] | [] |
3242024 | {'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 ... | [
"blood pressure of 111/59 mm Hg, pulse rate of 109 beats / min, respiratory rate of 20 / min, and body temperature of 36.0 ℃.",
"blood pressure of 209/147 mm Hg, pulse rate of 140 beats / min, respiratory rate of 25 / min, and body temperature of 36.5 ℃"
] | [] | [
"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."
] | [
"seizure - like episode lasting for approximately five minutes and subsiding spontaneously",
"frequent and insidious onset of seizure - like episodes, dysarthria, gait disturbance and a right - sided visual field defect that had started four years ago",
"Laboratory results were raised cerebrospinal fluid ( CSF ... | [
"Laboratory results were raised cerebrospinal fluid ( CSF ) lactate of 5.2 mmol / L.",
"Brain MRI showed infarction in the right temporal lobe, ischemia in the left posterior frontoparietal cortex and basal ganglia, and cystic lesion in the pineal gland with brainstem and cerebellar atrophy ( Fig. 1 ).",
"Trans... | [
"electrocardiography ( ECG ) showed supraventricular tachycardia",
"follow - up ECG showed sinus rhythm with pre - excitation",
"Transthoracic echocardiography revealed decreased early diastolic mitral annulus velocity ( E ' velocity ) and abnormal myocardial texture which were possibly associated with the init... | [] | [] | [] | [
"Electromyography revealed sensorimotor polyneuropathy and chronic myopathy",
"Biopsy of left vastus lateralis showed neurogenic atrophy and slightly increased lipid vacuoles without paracrystalline inclusion in the mitochondria"
] | [] | [] | [] | [] | [
"21 - year - old"
] | [] | [
"MELAS syndrome"
] | [] |
4750557 | {'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... | [] | [] | [
"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.",
"Her family history is significant for a 12 - year - old daughter who is currently asymptomatic and a sister who also carries the... | [
"a fall at her job that was thought to be secondary to a seizure",
"she was no longer able to be employed and her husband became her primary caretaker",
"sensorineural hearing loss",
"bilateral ophthalmoplegia, ptosis, seizures and stroke - like episodes with concern for dementia",
"Her brain MRI demonstrat... | [
"positive results for the A - to - G transition at nucleotide 3243 ( m.3243A > G ) of the mitochondrial genome, with 25 % heteroplasmic deleterious mutation in MT - TL1, a mitochondrial leucine transfer RNA gene",
"an echocardiogram demonstrated symmetric left ventricular hypertrophy with normal ventricular systo... | [
"progressive left ventricular hypertrophy ( LVH ) on echocardiogram",
"cardiac work - up included an EKG which showed sinus rhythm with frequent normally conducted premature atrial contractions and a Holter monitor that demonstrated episodes of non - sustained atrial tachycardia",
"an echocardiogram demonstrate... | [
"no hyperglycemia."
] | [] | [] | [
"myopathy",
"bilateral ophthalmoplegia, ptosis"
] | [
"sensorineural hearing loss,",
"bilateral ophthalmoplegia, ptosis,"
] | [] | [] | [] | [
"44 - year - old"
] | [
"age 32"
] | [
"mitochondrial myopathy , encephalopathy and stroke - like episodes ( MELAS )"
] | [] |
4369985 | {'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... | [] | [
"vomiting.",
"anorexia"
] | [
"previously healthy",
"generalized tonic - clonic seizures",
"In 1989, hearing impairment was first documented and ascribed to the previous encephalitis",
"recurrent admissions for seizures,",
"In 1999, he was diagnosed with diabetes mellitus",
"The patient 's sister was admitted to our department in Octo... | [
"headache",
"Meningism, but no focal neurological signs, was noted on examination",
"slight elevation of protein in the cerebrospinal fluid ( CSF ) but no increased cell count",
"right - sided weakness developed",
"Electroencephalogram demonstrated left parieto - occipital focal slowing",
"Results of T1 /... | [
"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... | [
"Electrocardiogram showed Wolff – Parkinson – White syndrome"
] | [
"diagnosed with diabetes mellitus, requiring insulin straightaway."
] | [] | [] | [] | [
"hearing impairment",
"Macular dystrophy, but no signs of diabetic retinopathy, was found on fundoscopy"
] | [] | [] | [] | [
"18 - year - old"
] | [
"18 - year - old"
] | [
"Mitochondrial encephalopathy with lactic acidosis and stroke - like episodes ( MELAS )"
] | [
"treatment with coenzyme Q 10 was started"
] |
4776051 | {'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... | [
"he had a short stature one standard below the mean with a BMI within normal limits."
] | [] | [
"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 has ... | [
"bilateral and partial external ophthalmoplegia with mild limitations in gaze in all directions;",
"MRI brain, echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal",
"His CSF prot... | [
"MRI brain, echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal",
"His CSF protein and lactate levels were elevated",
"A biopsy of the anterior right tibial muscle showed a highe... | [
"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... | [] | [] | [] | [] | [
"He had diplopia, decreased visual acuity and nyctalopia",
"bilateral and partial external ophthalmoplegia with mild limitations in gaze in all directions; visual acuity was four bilaterally with evidence of hypermetric astigmatism.",
"On funduscopic examination, bilateral atypical pigmentary retinopathy was se... | [] | [] | [] | [
"17 - year - old"
] | [
"onset of disease before 20 years of age"
] | [
"The diagnosis of KSS was made from the following findings"
] | [] |
4831400 | {'Case Description': 'Polyhydramnios in the second and third trimester of pregnancy is defined by (semiquantative) measurements such as a maximum vertical pocket (MVP) >8 cm, or an amniotic fluid index (AFI) >24 cm. Approximately 90% of cases are idiopathic or caused by gestational diabetes (GDM) 1 . However, 10% of ca... | [
"835 g ( −0.5 SDS ),"
] | [] | [
"A 30‐year‐old primigravid woman, with a so far uneventful pregnancy, was referred to our clinic with polyhydramnios",
"Aside from a spontaneously closed ventricular septal defect ( VSD ) in her own infancy, both parents were healthy",
"A maternal uncle of the mother had died postnatally of an unknown cause",
... | [
"mild dilatation of both lateral ventricles ( 11 mm ).",
"showing an enlarged cisterna magna ( 12 mm ) and a dysplastic and small cerebellum. The transcerebellar diameter measured 25.4 mm ( slightly below p3, with head circumference p50, Fig. 1 A ).",
"hypotonic infant",
"Cranial ultrasound on first postnatal... | [
"Firstâ€trimester combined test revealed a low risk for trisomies ( NT 1.1 mm ).",
"The anomaly scan was performed at 20 weeks GA and showed no abnormalities. Transverse cerebellar diameter was normal at p50.",
"More detailed fetal intracranial assessment was possible afterwards, showing an enlarged cisterna m... | [
"spontaneously closed ventricular septal defect ( VSD ) in her own infancy,",
"The myocardium was hypertrophic with a small perimembraneous VSD",
"Postnatal cardiac ultrasound confirmed the presence of a small VSD",
"hypotension",
"The VSD in our patient is considered to be a separate finding ( familial tra... | [] | [
"Testes were not palpable in the scrotum"
] | [
"respiratory distress syndrome.",
"poor condition with need for mechanical ventilation"
] | [
"He had relatively long and slender arms and legs, large hands, long fingers, small fingernails and somewhat broad distal phalanges",
"The lower extremities showed bilateral pes cavus with broad metatarsals and prominent heels",
"mitochondrial encephalomyopathy"
] | [] | [
"lack of subcutaneous fat. The muscles and bones were clearly visible. He had mild dysmorphic features with high and arched eyebrows, a hairy forehead, triangular face, a slight upslant of palpebral fissures, down turned corners of the mouth, mild hypoplastic alae nasi, prominent pointed chin, deep incisura between... | [
"First‐trimester combined test revealed a low risk for trisomies ( NT 1.1 mm ). The anomaly scan was performed at 20 weeks GA and showed no abnormalities. Transverse cerebellar diameter was normal at p50. At 25 + 5 weeks of gestation, she presented with signs of polyhydramnios ( uterine size that outpaced gestation... | [] | [
"30‐year‐old"
] | [] | [
"FBXL4 ‐related encephalopathy"
] | [] |
4750615 | {'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... | [] | [
"intermittent vomiting, diarrhea, constipation, weight loss"
] | [
"The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months",
"multiple admissions for ketotic hypoglycemia and severe lactic acidosis"
] | [
"fatigue that has persisted for over 18 months"
] | [
"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 ... | [
"ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal."
] | [] | [] | [] | [
"improved exercise tolerance",
"Previously confined to a wheel chair, he started to walk independently and actively"
] | [
"Ophthalmologic and audiologic exams were normal."
] | [] | [] | [] | [
"The patient presented at age seven years"
] | [] | [
"complex III deficiency"
] | [
"coenzyme Q10 , riboflavin , creatine monohydrate , alpha - lipoic acid , and medium chain triglyceride ( MCT ) oil was initiated , while continuing carnitine supplementation . Leucovorin was later added"
] |
5301300 | {'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... | [
"height 182 cm, weight 80 kg"
] | [] | [
"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... | [
"bilateral ptosis since age 23y,",
"ophthalmoparesis since at least age 27y,",
"Electroneurography at age 27y revealed axonal polyneuropathy",
"electroencephalography generalized poly - spike waves in the absence of seizures",
"bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, a... | [
"muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets",
"Cerebrospinal fluid ( CSF ) investigations at age 40y revealed elevated protein ( 1008mg / l, n : 150 - 450mg / l ) exclusively",
"Transthoracic echocardiography at... | [
"syncope at age 30y",
"24h - ECG at age 30y disclosed an intermittent AV - block II",
"Transthoracic echocardiography at age 40y revealed mild myocardial thickening",
"no indication for heart failure"
] | [] | [] | [
"abnormal respiratory pattern",
"Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm",
"acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles",
"hypercapnia due to muscular... | [
"bilateral ptosis since age 23y,",
"anterocollis since at least age 40y.",
"bilateral proximal weakness of the upper limbs, a winging scapula bilaterally",
"Needle-(electromyography ) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations",
"mild weakness of the lower limbs ( M5-/M... | [
"divergence of the ocular bulbs with double vision since age 6y",
"bilateral ptosis since age 23y,",
"ophthalmoparesis since at least age 27y",
"ptosis, ophthalmoparesis,",
"ophthalmoparesis since age 6y, ptosis since age 23y,"
] | [] | [] | [] | [
"45y",
"45y"
] | [
"age 6y"
] | [] | [] |
5402823 | {'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father... | [] | [] | [
"A 52 - year - old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence",
"He has never smoked tobacco or taken alcohol",
"His parents were first cousins from the Hausa ethnic group. His 78 - year - old fa... | [
"patient was oriented and scored 28/30 on the Mini - Mental State Examination Scale",
"dysarthria and slow saccades on eye movement",
"global hyperreflexia, bilateral ankle clonus, and extensor plantar responses",
"Muscle power was 5/5 in all limbs",
"glove - and - stocking sensory loss and bilateral cerebe... | [
"full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal",
"brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres",
"Each of the three sam... | [] | [] | [] | [] | [
"Muscle power was 5/5 in all limbs."
] | [
"and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy"
] | [] | [] | [] | [
"52 - year - old"
] | [] | [
"SCA7"
] | [] |
5128397 | {'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2... | [] | [
"nausea,"
] | [
"A 48 - year - old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.",
"Her medical history was significant for essential hypertension, poorly controlled type 2 ... | [
"presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.",
"her symptoms initially stabilized, but in the following week, the patient 's confusion worsened, and she developed clumsiness and sti... | [
"Computed tomography ( CT ) revealed a hypodense lesion within the left temporal lobe ( edema ) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging ( MRI ) demonstrated left temporal lobe diffusion signal abnormality and fluid - attenuated inversion recovery ( FLAIR ) hyperintensity predom... | [
"essential hypertension"
] | [
"poorly controlled type 2 diabetes mellitus"
] | [] | [] | [] | [
"dizziness",
"bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years",
"blurred vision,"
] | [] | [] | [] | [
"48 - year - old"
] | [] | [
"MELAS syndrome"
] | [
"high - dose intravenous arginine then oral citrulline at 0.5 mg / kg"
] |
5313432 | {'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochon... | [] | [
"vomiting"
] | [
"The patient was a 41 - year - old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age",
"He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondria... | [
"generalized convulsions, insomnia, and depression",
"ischemic stroke at 33 years of age",
"epileptic seizure with epileptic encephalopathy at 37 years of age.",
"myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age.",
"impaired consciousness",
"gaze nystagmus, cerebell... | [
"routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels ( 1.2 mg / dL ), but his serum lactate levels were normal ( 14.2 mg / dL ). The cerebrospinal fluid lactate ( 34.8 mg / dL ) and pyruvic acid ( 1.6 mg / dL )... | [] | [] | [] | [] | [] | [
"gaze nystagmus",
"no ophthalmoplegia, hearing loss"
] | [] | [] | [] | [
"41 - year - old"
] | [
"20 years of age"
] | [
"MELAS - like encephalopathy"
] | [] |
5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | [
"157 cm in height and 45 kg in weight",
"normal body temperature of 36.8 ° C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute."
] | [] | [
"The patient was a 37 - year - old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalize... | [
"psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic - clonic seizures. She had a long history of episodic migraine - like headaches",
"An electroencephalogram was performed on day 7 and displa... | [
"high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid - stimulating hormone ( TSH ) and free thyroxine ( FT4 ) were decreased. Her TSH level was low at 0.26 mU / L ( normal range 0.35–5.5 mU / L ), and FT4 concentration was 7.56 pmol / L ( normal range 10.2–31 ... | [] | [] | [] | [] | [] | [
"progressive bilateral hearing loss",
"Brainstem auditory evoked potential ( BAEP ) showed the bilateral sensorineural hearing loss."
] | [] | [] | [] | [
"37 - year - old"
] | [] | [
"The final diagnosis of MELAS syndrome was confirmed by genetic analysis ."
] | [
"L - arginine , phenobarbital , co - enzyme Q and levothyroxine substitution therapy ."
] |
5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | [
"A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits"
] | [] | [
"A 7 - month - old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play - related problem. The owners ’ complaints were that the cat had never used the litter tray, and it did not know how to play",
"After 3 months, the cat was referred to the neurolog... | [
"house soiling and a play - related problem.",
"did not know how to play.",
"the cat did not understand the body language of other cats and commonly crashed into other cats or people. It also ‘ tried to bite, catch and scratch the air ’ when playing. It did not find balls or other toys when the owners threw the... | [
"A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits. The feline immunodeficiency virus / feline leukaemia virus test was negative.",
"A thorax radiograph, abdominal ultrasound, brain magnetic resonance imaging ( MRI; 0.2 T ) and cerebrospinal ... | [] | [] | [] | [] | [
"bilateral carpal valgus"
] | [
"No ophthalmological abnormalities were detected",
"based on the behaviours at home described by the owners ( the inability to find some toys, and the behaviour of ‘ scratching and biting the air ’ ), some degree of visual impairment was suspected but not confirmed",
"visible suture line in the posterior capsul... | [] | [] | [] | [
"7 - month - old"
] | [] | [
"congenital spongiform polioencephalomyelopathy ( CSP ) was diagnosed postmortem"
] | [] |
5680934 | {'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... | [] | [
"poor weight gain with swallowing dysfunction and significant reflux disease"
] | [
"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... | [
"He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia",
"brachycephalic",
"swallowing dysfunction",
"started having orofacial and limb dyskinesias at 1.5 years",
"refractory multifocal epilepsy at 3 years of age",
"Electroencephalogram showed focal and diffus... | [
"magnetic resonance imaging brain scan and chromosomal microarray at 8 months of age, which was normal.",
"Whole - exome sequencing and direct sequencing confirmed that he harbored compound heterozygous missense mutations c.3130C > T ( p. Arg1044Cys ), c.3430C > T ( p. Arg1144Cys ), and c.4078G > A ( p. Ala1360Th... | [] | [] | [] | [
"central and obstructive sleep apneas at 3.5 years of age"
] | [
"brachycephalic"
] | [] | [
"hypopigmented hair"
] | [
"He was born at term, weighed 3100 g with good Apgar scores."
] | [] | [
"5 years of age"
] | [
"7 months of age"
] | [] | [] |
6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | [
"' On physical examination, the height and weight of the patient were 154 cm and 56 kg, respectively. Vital signs were normal"
] | [] | [
"A 52 - year - old female presented with a sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache. No fever or prodromal infection was found at disease onset.",
"Two months later, the patient was readmitted for subacute cognitive impairment. She was una... | [
"sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache.",
"Two months later, the patient was readmitted for subacute cognitive impairment. She was unable to identify and communicate with family members; she also had difficulty understanding questions o... | [
"MRI demonstrated a lamellar left parietal lobe lesion predominantly involving the cortex, with hyperintensity on both diffusion - weighted imaging and fluid - attenuated inversion recovery ( Figure 1 ). The apparent diffusion coefficient map revealed a preserved, isointense signal. No abnormalities were found by s... | [] | [] | [] | [] | [
"lack of symptoms of muscle weakness or pain",
"no other signs suggestive of myopathy"
] | [] | [] | [] | [] | [
"52 - year - old"
] | [] | [
"m.10158T > C mutation in the MT - ND3 gene"
] | [] |
6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | [
"On admission to the ICU, the vital signs were as follows : body temperature, 39 ° C; blood pressure, 150/80 mmHg; heart rate, 150 b.p.m.; respiratory rate, 30 breaths / min; and SpO2, 99 % ( FiO 2 40 % )"
] | [] | [
"A 24â€yearâ€old woman who had been diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokeâ€like episodes was admitted to our hospital with impaired consciousness and myoclonus."
] | [
"mildly impaired consciousness and myoclonus in the extremities",
"myoclonic movement in the extremities, mandible, and trunk",
"Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subcortical areas in T2 weighted imaging",
"impaired ... | [
"Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene",
"A laboratory examination showed increased serum pyruvic acid ( 2.1 mg / dL ) and lactate ( 75 mg / dL )",
"Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subco... | [] | [] | [
"urine appeared brown",
"PRIS"
] | [] | [
"Muscle weakness was detected in the upper and lower limbs bilaterally",
"urine appeared brown",
"PRIS"
] | [] | [] | [] | [] | [
"24‐year‐old",
"24‐year‐old"
] | [] | [
"diagnosed with MELAS at 21 years of age . Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene , clinically confirming the diagnosis of MELAS",
"diagnosed with mitochondrial myopathy , encephalopathy , lactic acidosis , and stroke‐like episodes"
] | [
"L‐arginine , coenzyme Q10 , and L‐carnitine aimed at supporting mitochondrial energy production were given",
"We continued coenzyme Q10 , L‐carnitine , and L‐arginine for mitochondrial support for MELAS"
] |
CaseReportBench is a curated benchmark dataset designed to evaluate how well large language models (LLMs) can perform dense information extraction from clinical case reports, with a focus on rare disease diagnosis.
It supports fine-grained, system-level phenotype extraction and structured diagnostic reasoning — enabling model evaluation in real-world medical decision-making contexts.
This dataset accompanies our upcoming publication:
Zhang et al. CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports.
To appear in the Proceedings of the Conference on Health, Inference, and Learning (CHIL 2025), PMLR.
The official PMLR citation and link will be added upon publication.
Each record includes:
id: Unique document IDtext: Full raw case reportextracted_labels: System-organized dense annotations (e.g., neuro, heme, derm, etc.)diagnosis: Final confirmed diagnosis (Inborn Error of Metabolism)source: PubMed ID or citationfrom datasets import load_dataset
ds = load_dataset("cxyzhang/caseReportBench_ClinicalDenseExtraction_Benchmark")
print(ds["train"][0])
@inproceedings{zhang2025casereportbench,
title = {CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports},
author = {Zhang, Cindy and Others},
booktitle = {Proceedings of the Conference on Health, Inference, and Learning (CHIL)},
series = {Proceedings of Machine Learning Research},
volume = {vX}, % Update when available
year = {2025},
publisher = {PMLR},
note = {To appear}
archivePrefix = {arXiv},
eprint = {2505.17265},
doi = {10.48550/arXiv.2505.17265}
}