Mitochondrial myopathy and myoclonic epilepsy

Author:

Arruda Walter O.,Torres Luiz F. B.1,lombes Anne,Dimauro Salvatore2,Cardoso Belkiss A.3,Teive Hélio A. G.,Paola Duilton de4,Seixas Ricardo R.

Affiliation:

1. Hospital Nossa Senhora das Graças; Universidade Federal do Paraná

2. Columbia College of Physicians and Surgeons

3. Universidade Federal do Rio de Janeiro

4. UFPR

Abstract

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Neurology (clinical)

Reference56 articles.

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2. Miopatia mitocondrial e epilepsia mioclônica: um estudo familial. Tema livre do XIII Congresso Brasileiro de Neurologia;Arruda WO;Arq Neuro-Psiquiat (São Paulo),1988

3. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin;Arts W;Lancet,1983

4. Progressive myoclonus epilepsies: specific causes and diagnosis;Berkovic SF;N Engl J Med,1986

5. Cytochrome C oxidase deficiency: a remarkable spectrum of clinical and neuropathological findings in a single family;Berkovic SF;Neurology,1987

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