Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, in which a pituitary growth hormone (GH) secretion deficiency of hypothalamic origin was revealed through neuro-endocrinological examinations, was described. The case was a 10-year-old girl, who had been suffering from generalized tonic seizures since age 5, four episodes of alternating hemiplegia since age 6, stunted growth since age 7, and simple partial motor seizures as well as gelastic seizures since age 8. Marked elevation of lactate and pyruvate in both serum and CSF, abundant ragged red fibers in biopsied muscle, and low density areas in the left occipital lobe and bilateral globus pallidus in addition to diffuse brain atrophy on CT scan and MRI of the head were demonstrated, although the activities of muscle enzymes complex I-IV were within normal ranges. Pituitary GH secretion was deficient under the loadings with insulin, L-DOPA, sleep, and a single growth hormone releasing factor (GRF) administration, but normal GH response was registered under the repetitive stimulation with GRF. Activities of other hormonal axes were normal. It is likely that short stature commonly observed in MELAS patients is due to hypothalamic dysfunction, which might be brought out by chronic ischemia and energy deficiency of the diencephalon based upon mitochondrial abnormality of that region. It is likely that gelastic seizure in this case is due to hypothalamic dysfunction.
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PMID:[Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS]. 187 57

We reported a case of mitochondrial encephalomyopathy with repeated stroke-like episodes. A 33-year-old single male was admitted to our hospital because of stroke-like episodes with visual field defect, hemiplegia and convulsion repeated seven times for the past seven years. There were no abnormalities on the physical examination. He was hallucinative and perseverative and had mental deficiency. Muscle weakness and atrophy were not prominent, and generalized hyporeflexia were present without pathological reflexes. Myoclonus was not observed. Serum CK and blood gas analysis were normal (pH 7.398). Although blood levels of lactate and pyruvate were almost within normal limit, lactate was elevated by 20WATT-15 minutes exercises. On the contrary, the CSF levels of lactate and pyruvate were elevated markedly. CT of the brain revealed the presence of the low density areas in the right occipital and the left frontal lobes. Cranial 4 vessels studies were unremarkable. EEG showed the diffuse slowness with spike and wave complex. CT of the muscles were normal. A specimen obtained from the left biceps brachii muscle showed ragged-red fibers without obvious myogenic or neurogenic changes, and accumulations of abnormal mitochondria with paracrystalline inclusion bodies were observed by electron microscopy. However, mitochondrial abnormalities were not seen in the vessel walls in the biopsied muscle. Activities of complex I + III, II + III, IV in mitochondria were normal. Clinical features of this case were consistent with MELAS. However, this case showed no muscle weakness, short stature and lactic acidosis which characterize MELAS, and the onset of this case was later than those cases that were reported before.
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PMID:[A case of mitochondrial encephalomyopathy characterized by repeated stroke-like episodes]. 250 53

We report an autopsy case of a 19 year-old man with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) a subgroup of mitochondrial encephalomyopathy presenting cardiomyopathy. He had repeatedly suffered from transient unconsciousness, hemiplegia, hemianopsia and convulsion attacks since the age of 9, and he died of severe congestive heart failure. In laboratory findings, blood lactate and pyruvate were markedly increased. Skeletal muscle biopsy demonstrated numerously scattered ragged-red fibers with modified Gomori's trichrome staining. Enzymatic activities of the mitochondrial respiratory chain showed a marked decrease of NADH cytochrome c reductase (complex I). In postmortem examination, the heart was 310g in weight and had right ventricular dilatation. Microscopically, degenerated and scattered myocardial cells (ragged-red fibers), interstitial edema and microvascular hyperplasia were demonstrated in the myocardium. Under the electron microscope, abnormal mitochondria proliferated and myofibrils were unusually sparse. Immunohistochemical studies with specific antibodies against the mitochondrial electron transfer enzyme subunits revealed a reduction of immunoreactive materials for complex I in the myocardium. These results suggested the relationship of myocardial disorders and decreased activity of complex I in electron transfer enzymes in this patient.
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PMID:[A study of myocardial disorders in an autopsy case of mitochondrial encephalomyopathy]. 846 36