pmcid stringclasses 138
values | text stringclasses 138
values | context stringclasses 138
values | role stringclasses 18
values | role-name stringclasses 18
values | raw-initial-ground-truth listlengths 0 18 |
|---|---|---|---|---|---|
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... | {'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... | Patient-History | History | [
"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"
] |
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... | {'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... | Neurology | Neuro | [
"fatigue that has persisted for over 18 months"
] |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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 ... |
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... | {'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... | Cardiovascular-System | CVS | [
"ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal."
] |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [
"improved exercise tolerance",
"Previously confined to a wheel chair, he started to walk independently and actively"
] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"Ophthalmologic and audiologic exams were normal."
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"The patient presented at age seven years"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"complex III deficiency"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [
"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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"height 182 cm, weight 80 kg"
] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"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"
] |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [
"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... |
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... | {'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... | Musculoskeletal-System | MSK | [
"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... |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"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,"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"45y",
"45y"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [
"age 6y"
] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [] |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [
"Muscle power was 5/5 in all limbs."
] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"52 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"SCA7"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | {'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... | Gastrointestinal-System | GI | [
"nausea,"
] |
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... | {'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... | Patient-History | History | [
"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 ... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"essential hypertension"
] |
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... | {'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... | Endocrinology | ENDO | [
"poorly controlled type 2 diabetes mellitus"
] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"dizziness",
"bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years",
"blurred vision,"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"48 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"MELAS syndrome"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [
"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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | {'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... | Gastrointestinal-System | GI | [
"vomiting"
] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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 )... |
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... | {'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... | Cardiovascular-System | CVS | [] |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"gaze nystagmus",
"no ophthalmoplegia, hearing loss"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"41 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [
"20 years of age"
] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"MELAS - like encephalopathy"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"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."
] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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 ... |
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... | {'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... | Cardiovascular-System | CVS | [] |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"progressive bilateral hearing loss",
"Brainstem auditory evoked potential ( BAEP ) showed the bilateral sensorineural hearing loss."
] |
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... | {'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... | Dermatology | DERM | [] |
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