Mitochondrial myopathy and myoclonic epilepsy

Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas
1990 Arquivos de Neuro-Psiquiatria  
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
more » ... ers 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.
doi:10.1590/s0004-282x1990000100006 pmid:2165773 fatcat:k4pj7naqwvdidcuejvwppoudhe