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A Case of MELAS Syndrome

Journal of the Korean Pediatric Society 1993;36(3):394-402.
Published online March 15, 1993.
A Case of MELAS Syndrome
1, 1, 1, 1, 1, 2
MELAS 증후군 1례
홍수종1, 심정연1, 박영서1, 문형남1, 홍창의1, 조정희2
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.
Key Words: Mitochondrial myopathy or encephalomyopathy, MELAS syndrome, Ragged-red fiber


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