All issues > Volume 36(3); 1993

Case Report

J Korean Pediatr Soc. 1993;36(3):394-402. Published online March 15, 1993.

A Case of MELAS Syndrome

Abstract

MELAS syndrome is a rae but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopaphy, lactic acidosis, and stroke-like episodes. We experienced a case of MELAS syndrome in an 8 year-old boy who showed headache, pain of the eyeball, vomiting, stroke-like episodes such as visual disturbance and dysarthria, myoclonic seizure, confusion, and walking disturbance. His serum lactate level was elevated up to 48mg/dl. MRI findings showed high signal intensities in T2-weighted image and low signal intensities in T1-weighted image in the 갸롯 thalamus and parietooccipital lobe and bilateral symmetric high signal intensity in T1-weighted image in the basal ganglia. We have seen the dispersed ragged-red fibers with modified Gomori trichrome stining on light microscope, and abundant and dysmorphic mitochondria on electon microscope in the specimen of muscle biopsy.

Keywords :Mitochondrial myopathy or encephalomyopathy, MELAS syndrome, Ragged-red fiber