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)

We report a 14-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who presented repeated episodes of abdominal pain and vomiting since the age of 8 years. In addition, he developed strokelike episodes with myoclonic seizures and transient hemiplegia on three occasions. At the age of 14-1/12-years, he also developed epilepsia partialis continua persisting for 10 days, which was associated with myoclonic seizures synchronized with spike discharges at the right central area. Laboratory examination disclosed increased levels of lactate and pyruvate in serum and CSF and low density areas in the bilateral temporal regions on CT scan. Muscle biopsy showed scattered ragged-red fibers. The enzyme activities (pyruvate dehydrogenase complex, pyruvate carboxylase, phosphoenol pyruvate carboxykinase, and cytochrome c oxidase) and the rates of decarboxylation of [3-14C]pyruvate in cultured skin fibroblasts were within normal ranges.
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PMID:[A case with MELAS associated with epilepsia partialis continua]. 189 96

A 21 year-old man presented with a history of sudden onset of aphasia and headache. CT showed a left parietal hypodensity and pallidal calcifications. The ECG showed a Wolff-Parkinson-White's syndrome. The patient then developed successively focal epileptic seizures, temper disorders, a cardiomyopathy, a pepper and salt retinopathy with hemeralopia, a left hemiplegia, deafness, and fever of unexplained origin. Left carotid angiography showed thin, irregular or occluded branches of the middle and anterior cerebral arteries. Blood muscle enzymes, lactate and pyruvate, were elevated with acidosis. Muscle biopsy revealed a mitochondrial myopathy and blood chemistry showed a severe deficiency of respiratory chain enzymes. Death occurred after 28 months. This case showed the diagnostic features of Melas, with some elements of the Kearns-Sayre syndrome. To our knowledge, this is the first case were serial angiographies allowed demonstration of arterial changes capable of explaining cerebral infarctions.
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PMID:[Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction]. 264 81

Seven patients (3 men, 4 women; age 15-48 years) from 6 families with mitochondrial encephalomyopathies were studied. There were 4 patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and 3 patients with myoclonus epilepsy and ragged-red fibers (MERRF). The clinical course was variable in both MELAS and MERRF patients. Interestingly, one MERRF patient had putaminal hemorrhage with left hemiplegia. In MELAS patients, brain computed tomography (CT) revealed cerebral hypodensity lesions affecting all four lobes and relative sparing of the basal ganglia and the thalamus. The CT of MERRF patients showed cerebral and cerebellar cortical atrophies in two and ventricular dilatation in one. During the recovery stages, magnetic resonance images (MRI) revealed subcortical white matter lesions in two MELAS patients and one MERRF patient. These subcortical white matter lesions were most prominent in the paraventricular areas. The present data indicate that in MELAS the hypodense lesions tend to affect the cerebral hemisphere and to spare the subcortical gray matter. Furthermore, the involvement of the paraventricular white matter may occur in both MELAS and MERRF.
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PMID:Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. 767 79

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

Otoacoustic emissions (OAEs) were evaluated in 51 ears of 30 patients with a severe auditory brainstem response (ABR) waveform abnormality. Thirteen ears showed no ABR to click sound of higher intensity than 100 dBSPL (group 1). Fourteen ears exhibited only wave V or a decreased amplitude pattern of ABR (group 2). Twenty-four ears showed a predominant wave I or no wave III pattern (group 3). Almost all the ears with absent ABR showed no OAE, which strongly suggested hearing loss of cochlear origin, although one patient with alternating hemiplegia of childhood exhibited definite OAEs and auditory reactions without ABR. One patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) and her mother in group 2 had OAE abnormalities, which also suggested mild to severe hearing impairment. When OAEs are present, an accompanying ABR abnormality may be produced by brainstem dysfunction of the underlying disorder such as Pelizaeus-Merzbacher disease. There was a significant relationship (chi-square test P<0.001) between the positivity of the distortion product OAE response and the clinical auditory reactions in 24 patients, although their ABR abnormalities did not reflect hearing impairment directly. Careful examination of both audiometry and OAEs might be necessary for further assessment of the hearing function in pediatric patients with neurological disorders and specific auditory nerve disease.
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PMID:Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality. 1089 41