A Case of MELAS Syndrome. |
Ki Joong Kim1, Yong Seung Hwang1, Young In Choi2, Sung Hye Park3, Je Geun Chi3 |
1Department of Pediatrics, Seoul National University, College of Medicine Seoul, Korea 2Department of Family Medicine, Seoul National University, College of Medicine Seoul, Korea 3Department of Pathology, Seoul National University, College of Medicine Seoul, Korea |
MELAS 증후군 1례 |
김기중1, 황용승1, 최영인2, 박성혜3, 지제근3 |
1서울대학교 의과대학 소아과학교실 2서울대학교 의과대학 가정의학과 3서울대학교 의과대학 병리학교실 |
Received: 17 May 1990 • Accepted: 24 July 1990 |
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Abstract |
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode)
syndrome is a rare but clinicopathologically distinctive mitochondrial disorder. We experienced a
case of MELAS syndrnmp in A 11 year-old girl who showed repeated attacks of stroke-like episodes,
vomitng, cortical blindness, hearing deficit and alternating hemiplegia. Serum lactic acid level was
elevated (6.4 mmol/Z). The diagnosis was confirmed by muscle biopsy which revealed dispersed
ragged-red fibers. |
Key Words:
Mitochondrial myopathy, MELAS syndrome |
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