慢性进行性眼外肌麻痹22例的临床和病理特点  

Chronic progressive external ophthalmoplegia: clinical and pathological analysis of 22 cases

作　　者：吴金玲[1] 焉传祝[1] 王勤周[1] 刘淑萍[1] 高素琴[1] 张永庆[1] 李大年[1] 

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《中华神经科杂志》2005年第12期737-740,共4页Chinese Journal of Neurology

基　　金：山东省自然科学基金资助项目(Y2002C34)

摘　　要：目的探讨慢性进行性眼外肌麻痹(CPEO)的临床和病理特点.方法对22例CPEO患者的临床表现和肌活检组织病理特点进行分析,其中8例行透射电镜观察.结果22例患者中男性7例,女性15例,平均起病年龄27岁.4例有家族史,其中2例为父女,疑为常染色体显性遗传;另2例为母女同时患病,其女儿的外祖母和曾外祖母均患病,符合母系遗传方式.22例患者中10例首发症状为眼睑下垂,2例为复视,2例为全身乏力,另8例不能详细描述.其中11例患者有肢体近端无力,吞咽困难8例,复视5例,4例有偏头痛病史,3例有心脏传导阻滞,3例有视网膜色素变性,2例有听力下降.6例患者肌酸激酶(CK)升高(328～938U/L).15例行肌电图检查,其中14例为肌源性损害,1例为神经源性损害.肌肉病理改变主要为不整红边纤维(RRF),细胞色素C氧化酶(COX)染色示散在分布的酶缺失纤维.结论本组CPEO患者临床表现与国外报道基本一致,主要为眼睑下垂和眼球运动障碍,仅少数患者有复视,部分患者有轻度肢体无力和不能耐受疲劳.诊断主要依赖肌活检病理发现不同数量的RRF和COX缺失纤维.Objective To investigate the clinical and pathological features of chronic progressive external ophthalmoplegia （CPEO）. Methods Clinical manifestations and pathological features of biopsied muscle specimens were summarized retrospectively. All muscle specimens were collected from biceps. Totally 8 cases were observed by electronic microscope. Results The onset of disease was ranged in age from 8 to 62 years,with an average of 27 years. Four patients in this group had positive family history. An autosomal dominant pattern of transmission was deduced from the family history of patients 6 and 7. A maternal transmission appeared most likely in the family of patient 21 and 22. It is more common in women than in men. Progressive external ophthalmoplegia was predominant in early stage. Two cases had diplopia and 2 had exercise intolerance before external ophthalmoplegia. In all 22 cases, 11 cases had proximal weakenss, 8 had dysphagia, 5 had diplopia, 4 had migraine, 3 had conduction defect, 3 had retinitis pigmentosa and 2 had hearing defect. The serum CK level was mildly elevated in 6 cases （328--938 U/L）. Electromyogram showed myogenic changes in 14 cases and neurogenic changes in 1 case. The striking and common pathologic findings were presence of ragged red fibers and the cytechrome c oxidase （COX） deficiency fibers on COX stains. Ultrastructural alterations included subsarcolemmal accumulation of mitechondria, increases of the number of mitechondria with abnormal shape, disarrangement of cristae and paracrystaline inclusion bodies. Conclusion The clinical and pathological features of CPEO are basically similar to those reported by other countries. Ragged red fibers and COX deficiency fibers would be crucial pathological clues for the diagnosis of CPEO.

关 键 词：眼肌麻痹 慢性进行性外侧 活组织检查 显微镜检查 电子 

分 类 号：R746[医药卫生—神经病学与精神病学]