Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Strokelike Episodes (MELAS): Report of a Sporadic Case and Review of the Literature

粒線體腦肌病變在臨床上是種成因多源性疾患，它們能影響全身器官，其中好犯中樞神經和骨骼肌系統。我們報告一位5歲男孩，臨床表現有身材矮小、肌肉無力、右側半身不遂、抽搐、意識障礙。過去六個月來陸續發現有學習困難、日常生活笨掘、記憶力減退，入院三星期前有口齒不清、右側偏盲、嘔吐、全身無力、步必履不穩、抽搐。臨床符合粒線體肌、腦病變、乳酸血症和類中風發作(MELAS症候群)。肌肉活體切片鏡檢，顯示有紅色襤褸肌纖維及粒線體異常，生化檢查有呼吸鏈酵素(NADH-CoQ reductase)缺損，血球及毛囊細胞粒線體DNA發現有“點突變”位於核苷第3243位置。此外我們也討論電腦斷層、腦血管攝影、核磁共振在MELAS症候群的發現，並提出可能的病理機轉。

關鍵字

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並列摘要

We studied a 5-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes that are characteristic of the MELAS syndrome. Results of biochemical, histopathological, and molecular genetic studies from the patient’s tissue meet the criteria for diagnosis of mitochondrial disease. An A to G transition at the 3243th nucleotide position of mitochondrial DNA (mtDNA) was found in the blood cells and hair follicles, instead of in muscle, from the propositus. To the best of our knowledge, this is the first reported MELAS case associated with mtDNA mutation in blood cells and hair follicles, instead of in the target muscle tissue, that has ever been documented in Taiwan. Brain lesions demonstrated by angiography, computed tomography (CT) and magnetic resonance imaging (MRI) are discussed.

並列關鍵字

mitochondrial encephalomyopathy ； MELAS syndrome ； point mutation ； NADH-C0Q reductase

國際替代計量

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Strokelike Episodes (MELAS): Report of a Sporadic Case and Review of the Literature

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