慢性进行性眼外肌麻痹的临床、病理和诊断(附12例报道)

Clinical manifestations,pathological changes and diagnosis of chronic progressive external ophthalmoplegia (twelve cases attached)

目的探讨进行性眼外肌麻痹(CPEO)的临床、病理特点及诊断。方法对我院肌肉活检确诊的12例CPEO的临床、病理和诊断进行分析。结果12例患者中男6例,女6例,平均起病年龄11.6岁。2例为同胞兄弟。12例均有进行性加重的双上睑下垂和眼球活动障碍,其中1例起病不对称。除眼外肌麻痹外,4例闭目肌力减退,1例轻度肢体无力,3例有内分泌异常。1例血清静止乳酸有轻度增高,2例CK、LDH轻度增高,5例EMG呈轻度肌源性损害。肌活检破碎红纤维(RRF)阳性肌纤维数和细胞色素氧化酶(COX)阴性肌纤维数均明显>2%。结论CPEO临床表现为进行性发展的眼外肌麻痹,主要为上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 manifestations,pathological changes and dignosis of chronic progressive external ophthalmoplegia. Methods Clinical manifestations,pathological changes and diagnosis were analyzed in twelve patients with chronic progressive external opthalmoplegia （CPEO）. Results In 12 patients,6 were male and 6 were female. The average age of onset was 11.6 years old. Two were siblings. All patients showed chronic progressive ptosis and difficulty in eye movements. All were symmetric except one at early stage. Besides ophthalrnoplegia, 4 had orbicularis weakness, 1 had mild limb weakness,3 had endocrine dysfunction. Ragged-red fiber （RRF） positive muscle fibers and cytochnome cxidase （COX） deficient muscle fibers were much more than 2% in all specimens of muscle biopsies. Conclusions The major clinical manifestations of CPEO are progressive ophthalmoplegia, which can be accompanied with limb weakness. Ragged red fibers and COX deficiency fibers are crucial pathological clues for the diagnosis of CPEO.