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題 名 | 粒腺體腦肌病變引起之眼肌麻痺和視神經萎縮--病例報告 |
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作 者 | 李耀煇; 吳建明; 李奕明; | 書刊名 | 中華民國眼科醫學會雜誌 |
卷 期 | 31:4 1992.12[民81.12] |
頁 次 | 頁125-130 |
分類號 | 415.9413 |
關鍵詞 | 粒腺體腦肌病變; 眼肌麻痺; 視神經萎縮; Mitochondrial encephalomyopathy; External ophthalmoplegia; Optic nerve atrophy; |
語 文 | 中文(Chinese) |
中文摘要 | 本篇報告一位7歲女性病例,自2歲開始逐漸有對稱性眼瞼下垂、兩側眼 球運動障礙、視力不良、呼吸急促、小頭畸型、聽力障礙、易疲倦、痴呆、運動 失調、四肢肌力降低和肝腫大。兩眼矯正後視力:右眼0.1,左眼為眼前30公分辨 指數。外眼肌運動檢查,兩眼除內收和外展仍正常外,其他方向運動皆有障礙。 眼底檢查發現兩側視神經萎縮。腦部電腦斷層掃描顯示腦萎縮;肌電圖顯示有肌 病變;動脈血液氣體分析顯示代謝性酸中毒;血中和腦脊髓液中的乳酸值均升高。 左手肱二頭肌之肌肉切片,雖然用modified Gomori trichrome染色沒有發現肌肉粒 線體病變常見之紅色襤褸肌纖維(ragged-redfiber),但用oil red O染色可見肌纖維中 有許多脂質小滴。肌肉粒線體酵素分析顯示NADH-cytochrome c reductase和 succinatecytochrome c reductase的活性皆明顯降低,故可確定診斷為粒線體腦肌病 變。 |
英文摘要 | A 7-year-old girl progressively had symmetricptosis, external ophthalmoplegia of both eyes, poorvision, tachypnea, microcephaly, bilateral hearingimpairment, fatigability, limb weakness, dementia.ataxia and hepatomegaly since 2 years old. Visualacuity was counting fingers at 30 cm in each eye, cor-rected to 20/200 in the right and uncorrected in the left. There was maiked limitation of the verticalmovements of each eye. Adduction and abductionwere full in both eyes. Fundoscopic examinationrevealed bilateral optic nerve atrophy without retinalpigmentary degeneration. CT scan showed brain atrophy. Myopathy was indicated by an EMG. Arterial blood gas revealed metabolic acidosis. Lactic acid level in blood and CSF increased. Muscle biopsy from left biceps brachii muscle showed lipid droplets in oil red 0 stain but no ragged-red fibers in modified Gomori trichrome stain. Biochemical analysis of mitochondrial enzyme revealed a low activity of NADH-cytochrome c reductase, succinate-cytochrome c reductase and a normal activity of cytochrome c oxidase. Despite of therapy with coenzyme Q and riboflavin, the patient died of respiratory failure. |
本系統中英文摘要資訊取自各篇刊載內容。