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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 extraocular muscle paralysis (CPEO). Methods The clinical manifestations and histopathological features of 22 cases of CPEO were analyzed, of which 8 cases were examined by transmission electron microscopy. Results Of 22 patients, 7 were male and 15 were female, with an average onset age of 27 years. 4 cases had a family history, of which 2 cases were father and daughter, suspected autosomal dominant; the other 2 cases of mother and daughter sick at the same time, her daughter’s grandmothers and ex-grandma were sick, in line with maternal hereditary way. Of the 22 patients, 10 had initial eyelid ptosis, 2 had diplopia, 2 had generalized malaise, and the other 8 had no detailed description. Eleven of them had proximal limb weakness, 8 had dysphagia, 5 had diplopia, 4 had migraine history, 3 had heart block, 3 had retinitis pigmentosa, and 2 had hearing loss. Six patients had elevated creatine kinase (CK) (328-938 U / L). Electromyography was performed on 15 patients, of which 14 were myogenic lesions and 1 was neurogenic lesions. Muscle pathological changes were mainly irregular red edge fibers (RRF), cytochrome C oxidase (COX) staining showed scattered in the enzyme-deficient fibers. Conclusion The clinical manifestations of CPEO patients in this group are basically consistent with those reported in foreign countries, mainly due to ptosis and eye movement disorders. Only a few patients have diplopia, and some patients have mild limb weakness and can not tolerate fatigue. The diagnosis relies mainly on muscle biopsy findings of varying numbers of RRF and COX-deficient fibers.