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目的:探讨慢性进行性眼外肌麻痹(CPEO)的临床、病理及诊断。方法:对6例CPEO患者的临床表现、病理特点进行分析并与另5组CPEO比较。结果:6例患者中男3例,女3例,平均起病年龄13岁。2例为同胞兄弟。6例均有进行性加重的双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,3例闭目肌力减退、1例轻度吞咽困难、1例轻度肢体无力。3例伴内分泌功能异常。肌活检破碎红纤维(RRF)阳性肌纤维数和细胞色素氧化酶(cytochromeoxidase,COX)阴性肌纤维数均明显>2%。结论:CPEO的主要临床表现为进行性发展的眼外肌麻痹,可伴肢体肌无力、视网膜色素变性、听力障碍、心脏传导异常、内分泌异常等。诊断主要依赖临床和肌肉活检中发现>2%的RRF+肌纤维、COX-肌纤维。
Objective: To investigate the clinical, pathological and diagnosis of chronic progressive extraocular muscle paralysis (CPEO). Methods: Six cases of CPEO patients with clinical manifestations, pathological features were analyzed and compared with the other five CPEO. Results: There were 3 males and 3 females in 6 patients, with an average onset age of 13 years. 2 cases for siblings. Both cases had progressive eyelid ptosis and ocular motility disorders, of which 1 case onset asymmetry. In addition to extraocular muscle paralysis, 3 cases of closed-head muscle weakness, 1 case of mild dysphagia, 1 case of mild limb weakness. 3 cases with endocrine dysfunction. Muscle biopsy broken red fibers (RRF) positive muscle fibers and the number of cytochrome oxidase (COX) negative muscle fibers were significantly> 2%. CONCLUSION: The main clinical manifestations of CPEO are progressive development of extraocular muscle paralysis, which may be associated with muscle weakness of the limbs, retinitis pigmentosa, hearing impairment, cardiac conduction abnormalities, endocrine abnormalities and so on. The diagnosis is mainly based on clinical and muscle biopsies found> 2% of RRF + myofibers, COX-myofibers.