A Case Report of MELAS Syndrome

ABSTRACT

Mitochondnal encephalomyopathies are multisysternic diseases affecting predominantly the CNS and skeletal muscLes by mitochondrial dysfunction. Mitochondrial diseases include three distinct syndromes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) myoclonus epilepsy associated with ragged-red fibers (MERRF)and chronic progressive external ophthalmoplegia(CPEO). A characteristic abnormality called "ragged-red fibers" is usually seen on histochemical evaluation of muscle biopsy specimens in these diseases. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearmg loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome confirmed by demonstrating "ragged-red fibers" and abnormal mitochondria in muscle biopsy.