粒腺體腦肌病變引起之眼肌麻痹和視神經萎縮－病例報告

Ophthalmoplegia and Optic Nerve Atrophy Due to Mitochondrial Encephalomyopathy-A Case Report

李耀輝(Yao-Huei Lee) ； 吳建明(Chien-Ming Wu) ； 李奕明(Yih-Ming Lee)

《中華民國眼科醫學會雜誌》 31卷4期 (1992/12) Pp. 517-522

https://doi.org/10.30048/ACTASOS.199212.0021

摘要

本篇報告一位7歲女性病例，自2歲開始逐浙有對稱性眼瞼下垂、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合分辨指數。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約升高。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-red fiber)，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Succinate cytochrome c reductase的活性皆明顯降低，故可確定診斷為粒線體腦肌病變。

並列摘要

A 7-year-old girl peogressively had symmetric ptosis, external ophthalmoplegia of both eyes, poor vision, tachypnea, microcephaly, bilateral hearing impairment, fatigability, limb weakness, dementia. ataxia and hepatomegaly since 2 years old. Visual acuity was counting fingers at 30 cm in each eye, corrected to 20/200 in the right and uncorrected in the left. There was marked limitation of the vertical movements of each eye. Adduction and abduction were full in both eyes. Fundoscopic examination revealed bilateral optic nerve atrophy without retinal pigmentary 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.

並列關鍵字

Mitochondrial encephalomyopathy ； external ophthalmoplegia ； optic nerve atrophly