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眼腦神經肌肉症合併殘紅纖維-病例報告

Oculocraniosomatic Neuromuscular Disease with "Ragged-Red" Fiber-A Case Report

摘要


本文報告一10歲女孩,有漸發性手部顫抖、步態不穩、智力減退,同時有眼肌麻痺、網膜色素病變等症狀。在kearns-Sayre症候群的診斷下,做肌肉切片(股三頭肌),在modified trichrome染色下,看到”ragged-red fiber”,電子顯微鏡下得知此為細胞紅腺體的異常,由於這是第一次有光學及電子顯微鏡之報告,提出供參考。

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並列摘要


We describe a 10-year-old girl who has a progressive external ophthalmoplegia, retinal pigmentary degeneration, progressive hand tremor, staggering gait, mentality decrease and hearing impairment, those are the characteristic manifestations of Kearns-Sayre syndrome. On investigation, of muscle biopsy from Triceps she was found to have structually abnormal mitochondria, as seen on electron microscopy, and correlated with an abnormal ”ragged-red” fiber withmodified trichrome stain.

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