- J Korean Neurol Assoc. 1993;11(2):254-260.
- 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
- MELAS 증후군 1예
- 이태윤, 홍도권,임성룡,허경,조효근
- 인제대학교 신경과.
- 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.
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