成人发病的肌原纤维肌病的临床和病理学特征(附2例报告)  

Clinical and pathological features of myofibrillar myopathy with adulthood onset (report of 2 cases)

作　　者：吴红然[1] 刘星[1] 卜一[1] 孙丽燕[1] 吴东霞[1] 郭艳苏[1] 宋学琴[1] 

机构地区：[1]河北医科大学第二医院神经内科,050000

出　　处：《临床神经病学杂志》2013年第4期251-253,共3页Journal of Clinical Neurology

摘　　要：目的探讨成人发病的肌原纤维肌病的临床和病理学特征。方法回顾性分析2例成年发病的肌原纤维肌病患者的临床资料。结果 2例患者表现为近端或远近端肌肉无力,进行性加重。光镜下可见肌纤维内和肌膜下颗粒样或团块样物质沉积,免疫组化为结蛋白。电镜发现1例肌膜下及肌原纤维间存在大小不一的包涵体,另1例肌原纤维排列紊乱,Z线不规则样增粗。常见突变基因检测未见异常。结论成人发病的肌原纤维肌病临床无特异性表现,其病理学特征为肌纤维内可见异常物质沉积,电镜发现肌原纤维间包涵体结构或Z线异常。Objective To investigate the clinical and pathological features of myofibrillar myopathy （ MFMs ） with adulthood onset. Methods Clinical data of 2 MFMs patients with adulthood onset were analyzed retrospectively. Results The 2 patients were proximal or proximal-distal muscle weakness, and became progressively sever. Particulate or ball depositions was found in muscle fiber and sarcolemma under light microscope. Immnnohistoehemica] staining showed the depositions were desmin. Variably-sized inclusion bodies were in muscular mantle and myofibrils under electron microscopy in one case, and myofibrils derangement and Z disk irregular thickening in the other case. The common mutant gene was normal. Conclusions There is no special clinical manifestation in MFMs with adulthood onset. The pathological feature is that abnormal materials deposition can be found in muscle fibers. The electron microscopy showed inclusion bodies in myofibrils or Z disk abnormal.

关 键 词：肌原纤维肌病 结蛋白 临床特点 病理学 

分 类 号：R746[医药卫生—神经病学与精神病学]