表现为肌肉波纹样蠕动的窖蛋白相关肌病三例并文献复习  

Caveolin-associated myopathy： three cases with muscle rippling and a literature review

作　　者：单晶莉[1] 戴廷军[1] 纪坤乾 李伟[1] 赵玉英[1] 焉传祝[1,2] Shah Jingli;Dai Tingjua;Ji Kurtqian;Li Wei;Zhao Yuying;Yah Chuanzhu(Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, China)

机构地区：[1]山东大学齐鲁医院神经内科,济南250012 [2]山东省青岛市线粒体医学实验室

出　　处：《中华神经科杂志》2018年第6期405-411,共7页Chinese Journal of Neurology

摘　　要：目的报道3例窖蛋白相关肌病患者的临床、肌肉病理及分子病理特点,并结合文献对本病进行回顾.方法总结3例以肌肉波纹样蠕动为突出特点患者的临床和随访资料,分析肌肉活体组织检查（活检）病理和窖蛋白-3免疫组织化学病理特点,行CAV3和PTRF基因检测.结果3例患者临床均有典型的肌肉兴奋性增高症状,包括叩击诱发的肌肉快速收缩和肌肉隆起以及机械刺激诱发的肌肉波纹样蠕动.例1尚有手肌无力和萎缩;例2在病程早期仅表现为肌肉兴奋性增高症状,起病12年后出现不对称的下肢远端肌无力和肌萎缩;例3肌力和肌张力均正常.3例患者均有肌肉酸痛或压痛.肌活检病理提示2例患者呈轻度肌源性损害,1例为肌营养不良样改变.肌肉窖蛋白-3免疫组织化学染色示例1肌膜着色呈均一性减弱,另2例为窖蛋白-3表达减弱肌纤维与表达正常肌纤维呈镶嵌样分布.基因检测发现例1有CAV3基因突变（c.80G〉A,p.R27Q）,另2例CAV3和PTRF基因检测均未见突变.结论窖蛋白相关肌病患者的临床表现变异较大,可表现为肢带综合征、波纹样肌病、远端肌病、肌肉肥大、高肌酸激酶血症以及心肌病.对伴有肌肉波纹样蠕动的患者应常规行肌活检窖蛋白-3免疫组织化学染色.Objective To summarize the clinical , pathological and genetic characteristics of three patients with caveolin-3 associated myopathy and review the literatures .Methods The clinical data of three patients with caveolin-3 associated myopathy were investigated .With informed consent , we performed muscle biopsy and genetic analysis of CAV 3 and PTRF genes.Results All the three patients presented with percussion/pressure-induced rapid contraction , percussion-induced muscle mounding and mechanically induced muscle rippling.Besides, case 1 had weakness and atrophy of hand muscles .Case 2, who manifested with muscle hyperexcitability at onset , developed weakness and atrophy of distal part of lower limbs.Case 3 showed normal muscle strength and tone .All of them had myalgia or tenderness .Muscle biopsy revealed mild myogenic changes in two patients and a muscular dystrophic pattern in one . Immunohistochemical staining of caveolin-3 revealed an even deficiency in case 1 and a mosaic deficiency in cases 2 and 3.Gene analysis revealed a missense mutation （ c.80G〉A, p.R27Q） in CAV3 gene of case 1. No mutations were identified in cases 2 and 3.Conclusions There is phenotypic variability in patients with caveolin-associated myopathy , including limb-girdle syndrome , rippling muscle disease , distal myopathy , muscle hypertrophy , idiopathic hyperCKemia and cardiomyopathy .Muscle biopsy and caveolin-3 staining should be performed for the above patients with muscle rippling .

关 键 词：肌营养不良 肌疾病 肌肉波纹样蠕动 窖蛋白3 

分 类 号：R746[医药卫生—神经病学与精神病学]