以眼部表现为主线粒体脑肌病的临床和病理特点

Clinical and pathological analysis in patients with Mitochondrial encephalomyopathy with mainly symptoms in the eye

目的 探讨以眼部表现为主线粒体脑肌病的临床、病理特点.方法 对12例慢性进行型眼外肌麻痹（CPEO）和2例Keams-Sayre综合征（KSS）的临床表现和肌肉活检结果进行分析.结果 14例患者中男8例,女6例,平均起病年龄11.5岁.2例为同胞兄弟.14例均有进行性加重的双睑下垂和眼球活动障碍,其中2例起病不对称,1例双眼复视.除眼外肌麻痹外,5例闭目肌力减退,1例轻度肢体无力,1例心脏传导阻滞,2例有视网膜色素变性、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（COX）阴性肌纤维数均明显增多.结论 CPEO和KSS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不同数量的RRF阳性肌纤维、COX阴性肌纤维.

Objective To investigate the clinical manifestations,pathological characteristics of mitochondrial encephalomyopathy with the mainly symptoms in the eye.Methods Clinical manifestations and pathological changes were analyzed in 12 patients with chronic progressive external opthalmoplegia （CPEO） and 2 patients with kearns-sayre syndrome.Results：In 14 patients,8 were male and 6 female.The average age of onset was 1 1.5 years old,2 were siblings.All patients showed chronic progressive ptosis and difficulty in eye movements.All were symmetric except 2 at early stage.Besides ophthalmoplegia,5 had orbicularis weakness,1 had mild limb weakness,1 had auditory defect,2 had retinitis pigmentosa,3 had endocrine disfunction.Ragged-red fiber （RRF） positive muscle fibers and cytochnome cxidase （COX） deficient muscle fibers were increased in all specimens of muscle biopsies.Conclusions The major clinical manifestation of CPEO and kss is progressive ophthalmoplegia,which can be accompanied by limb weakness,retinitis pigmentosa,deafness,heart conduction defect,endocrine dysfunction,etc.Ragged red fibers and COX deficiency fibers would be crucial pathological clues for the diagnosis of CPEO and Kss.