A Case Report of MELAS Syndrome

J Korean Neurol Assoc > Volume 11(2); 1993 > Article

Journal of the Korean Neurological Association 1993;11(2): 254-260.

MELAS 증후군 1예

이태윤, 홍도권,임성룡,허경,조효근

인제대학교 신경과.

A Case Report of MELAS Syndrome

Tae-Yoon Lee, M.D., Do-Kwon Hong, M.D., Sung-Ryoung Lim, M.D., Kyong Heo, M.D., Hyo-Kun Cho, M.D.

Department of Neurology, College of Medicine Inje University

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.