A Case Report of MELAS Syndrome.
- Author:
Tae Yoon LEE
1
;
Do Kwon HONG
;
Sung Ryoung LIM
;
Kyong HEO
;
Hyo Kun CHO
Author Information
1. Department of Neurology, College of Medicine, Inje University, Korea.
- Publication Type:Case Report
- MeSH:
Biopsy;
Epilepsies, Myoclonic;
Glucose Intolerance;
Headache;
MELAS Syndrome*;
Mitochondria;
Mitochondrial Diseases;
Muscle, Skeletal;
Stroke
- From:Journal of the Korean Neurological Association
1993;11(2):254-260
- CountryRepublic of Korea
- Language:Korean
-
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.
