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KMID : 0363419990130020225
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Journal of Korean Oriental Pediatrics
1999 Volume.13 No. 2 p.225 ~ p.235
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A Case Report of MELAS Syndrom
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Lee Jin-Yong
Kim Deog-Gon
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Abstract
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MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. Characteristic abnormalities are two. first, ’’ragged-red fibers’’ in muscle biopsy. second, point mutation in the mitochondrial DNA analyses. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearng loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome having mitochondrial DNA mutation with an A to G transition at the 3,243rd position diagnosed in Chung-ang Hospital
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KEYWORD
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MELAS, ragged-red fibers, mitochondrial DNA mutation
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