【摘要】 目的探讨慢性进行性眼外肌瘫痪(CPEO)的临床和骨骼肌病理学特点。方法回顾性分析6例CPEO患者的临床及病理资料。结果6例CPEO患者4~18岁起病,首发症状为眼睑下垂,主要临床表现为眼球活动受限,并有肢体易疲劳、无力,血清肌酸激酶轻到中度升高;5例肌电图呈肌源性损害。肌肉病理学检查可见散在的破碎红纤维(RRF),细胞色素C氧化酶(COX)活性减低/缺失;4例患者可见少量变性、坏死肌纤维;3例油红"O"染色见脂滴增多;电镜下可见肌纤维膜下、胞浆中线粒体数量增多、聚集,形态异常,可有结晶状的包涵体。结论CPEO临床主要表现为眼外肌瘫痪合并肢体肌无力;骨骼肌病理显示大量RRF及COX活性减低/缺失提示和支持CPEO的诊断;CPEO确诊需在骨骼肌病理诊断基础上行基因测序。更多还原

【Abstract】 Objective To investigate the clinical and skeletal muscular pathological features of chronic progressive external ophthalmoplegia(CPEO).Methods The clinical and skeletal muscular pathological data of 6 patients with CPEO were analyzed retrospectively.Results All of the 6 patients onset were 4 to 18 years old.The first symptom was blepharoptosis.The clinical mainly manifestations were limited activity of eyeball,accompanied with limbs muscle fatigue,weakness and level elevatation of serum creatine kinase(CK).5 cases had myogenic changes in electromyography(EMG).The skeletal muscular pathological examination showed that the ragged red fibers(RRF)were scattered among the muscle fibers,and the deficient or absent of COX activity in many fibers.A few degenerating and necrotic fibers were observed in 4 cases.Lipid-drops were increased by oil red "O" stain in 3 cases.Electromicroscope showed that abnormal mitochondria increased in number and aggregated under sarcolemma or in cytoplasm.Crystalloid inclusion body could be observed.Conclusions The clinical mainly features of CPEO are external ophthalmoplegia and accompanied with limbs weakness.RRF and COX activity deficiency or absence according to skeletal muscle pathology can be suggest and support the diagnosis of CPEO.Gene sequencing based on skeletal muscle biopsy is necessary to make the final diagnosis of CPEO.更多还原