慢性进行性眼外肌麻痹的临床和病理研究

Clinicopathological features of chronic progressive external ophthalmoplegia

目的总结慢性进行性眼外肌麻痹(CPEO)的临床和病理特点。方法回顾分析2015年10月至2017年7月于我院确诊的5例CPEO患者的临床及骨骼肌病理特点。结果男性2例,女性3例,均为散发病例,平均起病年龄(27.8±12.56)岁(15～51岁)。4例首发症状为眼睑下垂,1例为复视。5例均有眼睑下垂及眼球活动障碍,2例伴复视,1例有轻度颈屈肌和四肢近端肌无力,1例19岁月经初潮且身体矮小。5例新斯的明试验及血清乙酰胆碱受体抗体均阴性。仅1例肌酸激酶(CK)水平轻度升高(251 U/L)。1例心电图完全性右束支传导阻滞。5例均行肌电图检查,其中2例部分被检肌呈肌源性改变,5例重复神经电刺激均正常。5例头颅MRI均正常。骨骼肌病理改变主要为异常增多的破碎红纤维(RRF)、破碎蓝纤维(RBF)和细胞色素C氧化酶(COX)阴性肌纤维。结论 CPEO患者主要临床特点为进行性眼睑下垂和眼球活动障碍,少数患者可伴复视或轻微肢体近端肌无力、心脏传导阻滞和发育迟缓等。主要诊断措施为骨骼肌病理可见异常增多的RRF和COX阴性肌纤维。

Objective To investigate the clinicopathological features of chronic progressive external ophthalmoplegia （CPEO）. Methods A retrospective analysis was performed for the clinical data of five patients who were diagnosed with CPEO in our hospital from October 2015 to July 2017 to investigate the clinical features and pathological features of the skeletal muscle. Results There were two male and three female patients, which were all sporadic cases, with a mean age of onset of 27.8 ± 12.56 years （ range 15 -51 years）. Four patients had an initial symptom of blepharoptosis and one had an initial symptom of diplopia. All of the five patients had blephar- optosis and ocular motility disorders, among whom two had diplopia, one had mild weakness of the cervical flexor and the proximal limb muscles, and one had menarche at the age of 19 years with short stature. All five patients had negative results of neostigmine test and serum acetylcholine receptor antibody test. Only one patient had a mildly elevated level of creatine kinase （251 U/L）. One patient had complete right bundle branch block based on electrocardiographic findings. Electromyography was performed for all five patients, among whom two had myogenic changes in some of the muscles examined. All patients had normal repeated electrical nerve stimulation and head MRI findings. Major pathological changes of the skeletal muscle included abnormal increases in ragged red fibers （ RRF）, ragged blue fibers, and cytochrome C oxidase （ COX ） -negative muscle fibers. Conclusions Major clinical features of patients with CPEO include progressive blepharoptosis and ocular motility disorders, and some patients may have diplopia, mild weakness of the proximal limb muscles, heart block, and growth retardation. Skeletal muscular pathology is the main diagnostic measure and shows abnormal increases in RRF and COX-negative muscle fibers.