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 |
|---|---|---|---|---|---|
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 ... | {'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 ... | Eyes-Ears-Nose-Throat | EENT | [] |
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 ... | {'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 ... | Dermatology | DERM | [] |
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 ... | {'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 ... | Pregnancy | Pregnancy | [
"She was born after a normal pregnancy and delivery."
] |
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 ... | {'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 ... | Lymphatic-System | LYMPH | [] |
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 ... | {'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 ... | Age-at-Presentation | Age (at case presentation) | [
"27 - year - old"
] |
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 ... | {'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 ... | Age-of-Onset | Age (of onset) | [] |
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 ... | {'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 ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"MELAS syndrome"
] |
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 ... | {'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 ... | IEM-Treatment | IEM_Treatment | [] |
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 ... | {'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 ... | Vitals-and-Hematology | Vitals_Hema | [
"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 ℃"
] |
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 ... | {'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 ... | Gastrointestinal-System | GI | [] |
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 ... | {'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 ... | Patient-History | History | [
"frequent and insidious onset of seizure - like episodes, dysarthria, gait disturbance and a right - sided visual field defect that had started four years ago without any history of essential hypertension, diabetes mellitus and dyslipidemia."
] |
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 ... | {'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 ... | Neurology | Neuro | [
"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 ... |
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 ... | {'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 ... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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 ... | {'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 ... | Cardiovascular-System | CVS | [
"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... |
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 ... | {'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 ... | Endocrinology | ENDO | [] |
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 ... | {'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 ... | Genitourinary-System | GU | [] |
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 ... | {'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 ... | Respiratory-System | RESP | [] |
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 ... | {'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 ... | Musculoskeletal-System | MSK | [
"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"
] |
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 ... | {'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 ... | Eyes-Ears-Nose-Throat | EENT | [] |
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 ... | {'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 ... | Dermatology | DERM | [] |
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 ... | {'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 ... | Pregnancy | Pregnancy | [] |
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 ... | {'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 ... | Lymphatic-System | LYMPH | [] |
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 ... | {'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 ... | Age-at-Presentation | Age (at case presentation) | [
"21 - year - old"
] |
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 ... | {'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 ... | Age-of-Onset | Age (of onset) | [] |
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 ... | {'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 ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"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 ... | {'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 ... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"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... |
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... | {'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... | Endocrinology | ENDO | [
"no hyperglycemia."
] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [
"myopathy",
"bilateral ophthalmoplegia, ptosis"
] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"sensorineural hearing loss,",
"bilateral ophthalmoplegia, ptosis,"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"44 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [
"age 32"
] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"mitochondrial myopathy , encephalopathy and stroke - like episodes ( MELAS )"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | {'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... | Gastrointestinal-System | GI | [
"vomiting.",
"anorexia"
] |
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... | {'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... | Patient-History | History | [
"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... |
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... | {'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... | Neurology | Neuro | [
"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 /... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"Electrocardiogram showed Wolff – Parkinson – White syndrome"
] |
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... | {'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... | Endocrinology | ENDO | [
"diagnosed with diabetes mellitus, requiring insulin straightaway."
] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"hearing impairment",
"Macular dystrophy, but no signs of diabetic retinopathy, was found on fundoscopy"
] |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"18 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [
"18 - year - old"
] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Mitochondrial encephalopathy with lactic acidosis 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... | {'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... | IEM-Treatment | IEM_Treatment | [
"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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"he had a short stature one standard below the mean with a BMI within normal limits."
] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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 ... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"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... |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [] |
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... | {'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... | Respiratory-System | RESP | [] |
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... | {'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... | Musculoskeletal-System | MSK | [] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"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... |
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... | {'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... | Dermatology | DERM | [] |
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... | {'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... | Pregnancy | Pregnancy | [] |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"17 - year - old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [
"onset of disease before 20 years of age"
] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"The diagnosis of KSS was made from the following findings"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"835 g ( −0.5 SDS ),"
] |
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... | {'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... | Gastrointestinal-System | GI | [] |
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... | {'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... | Patient-History | History | [
"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",
... |
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... | {'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... | Neurology | Neuro | [
"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... |
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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
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... | {'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... | Cardiovascular-System | CVS | [
"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... |
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... | {'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... | Endocrinology | ENDO | [] |
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... | {'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... | Genitourinary-System | GU | [
"Testes were not palpable in the scrotum"
] |
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... | {'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... | Respiratory-System | RESP | [
"respiratory distress syndrome.",
"poor condition with need for mechanical ventilation"
] |
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... | {'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... | Musculoskeletal-System | MSK | [
"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"
] |
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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [] |
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... | {'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... | Dermatology | DERM | [
"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... |
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... | {'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... | Pregnancy | Pregnancy | [
"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... |
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... | {'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... | Lymphatic-System | LYMPH | [] |
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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"30‐year‐old"
] |
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... | {'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... | Age-of-Onset | Age (of onset) | [] |
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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"FBXL4 ‐related encephalopathy"
] |
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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
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... | Vitals-and-Hematology | Vitals_Hema | [] |
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... | Gastrointestinal-System | GI | [
"intermittent vomiting, diarrhea, constipation, weight loss"
] |
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