MELAS SYNDROME - PERIPHERAL NEUROPATHY AND CYTOCHROME-C-OXIDASE DEFICIENCY - A CASE-REPORT AND REVIEW OF THE LITERATURE

A 4-year-old boy presented with developmental delay, aggressive behavi or, and incoordination. His EEG showed a diffuse encephalopathy. At ag e 10 he developed convulsions and severe migraine-like headaches. Musc le wasting, arreflexia, and lactic acidemia following exercise were no ted. Electromyography was myopathic and nerve conduction studies revea led a peripheral neuropathy. Muscle biopsy demonstrated variation in f iber size and an excess of lipid droplets. He then had several stroke- like episodes and periods of unconsciousness, associated with severe m etabolic acidosis. Muscle cytochrome C oxidase was abnormally low. Thi s boy displayed the classical clinical and biochemical features of MEL AS syndrome, namely Mitochondrial myopathy, Encephalopathy, Lactic Aci dosis, and Stroke-like episodes. Treatment included carnitine, vitamin C, vitamin K, riboflavin, coenzyme Q(10), and corticosteroids. He die d at the age of 14 years following an episode of seizures, coma, and g astrointestinal hemorrhage. This is the first reported case of MELAS s yndrome in Israel.