CAJ | 학술논문

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.
목적 탐토이안부표현위주선립체뇌기병적림상、병리특점.방법 대12례만성진행형안외기마비(CPEO)화2례Keams-Sayre종합정(KSS)적림상표현화기육활검결과진행분석.결과 14례환자중남8례,녀6례,평균기병년령11.5세.2례위동포형제.14례균유진행성가중적쌍검하수화안구활동장애,기중2례기병불대칭,1례쌍안복시.제안외기마비외,5례폐목기력감퇴,1례경도지체무력,1례심장전도조체,2례유시망막색소변성、3례반내분비공능이상.기활검파쇄홍섬유(RRF)양성기섬유수화세포색소양화매(COX)음성기섬유수균명현증다.결론 CPEO화KSS주요림상표현위진행성발전적안외기마비,가반지체기무력、시망막색소변성、은력장애、심장전도이상、내분비이상등.진단주요의뢰림상화기육활검중발현불동수량적RRF양성기섬유、COX음성기섬유.
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.