- 期刊
Leigh Syndrome Presenting with Dystonia: Report of One Case
Leigh症候群以肌張力不全表現一病例
摘要
一位二十二個月女嬰以發育遲緩及肌張力不全爲臨床表現，腦部磁振造影檢查顯示兩側被殼有對稱性不正常高訊號病灶，病人血中乳酸焦葡萄酸比值大於二十(29.25)，口服葡萄糖乳酸刺激反应爲陽性，肌肉切片在電子顯微鏡檢查下發現粒線體結構異常，臨床上，合乎Leigh氏症候群的診斷，然而此病人及其母樣之血液粒線體去氧核糖核酸分析均發現在核甘酸8344有點突變的現象，此類病例仍屬罕見，特提出報告。
並列摘要
A 22-month-old female presented with developmental delay and dystonia. The T2 weighted image of the brain MRI showed bilateral symmetrical high signal lesions over the putamen. An increased serum lactate pyruvate ratio (29.25) and a positive oral glucose lactate stimulation test were noted. Electron microscopic examination showed abnormal mitochondrial aggregation with band cristae in the subsarcolemmal area. These findings were indicative of clinical Leigh's syndrome. However, unusually the mt DNA analysis showed a point mutation at the nucleotide position 8344.
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延伸閱讀
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