河南一腓骨肌萎缩症家系分析并文献复习  

A Charcot-Marie-Tooth disease family analysis and literature review in Henan

作　　者：孙瑞华 时英英 夏明荣 张杰文[1] SUN Ruihua;SHI Yingying;XIA Mingrong;ZHANG Jiewen(Department of Neurology,Henan University People′s Hospital,Henan Provincial People′s Hospital,Zhengzhou 450003,China)

机构地区：[1]河南大学人民医院河南省人民医院神经内科

出　　处：《中国实用神经疾病杂志》2019年第18期2075-2081,共7页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金项目(编号:81873727)

摘　　要：目的报道一腓骨肌萎缩症(peroneal muscular atrophy)家系的临床表现、影像学特征、基因特点和遗传方式,并结合文献进行复习。方法分析一腓骨肌萎缩症家系中患有糖尿病的先证者以进行性对称性远端肌无力和肌肉萎缩、腱反射减弱或消失、远端感觉减退为临床表现,行电生理、基因检测等检查,并对其家属行多重链接探针扩增技术(MLPA)检测周围神经髓鞘蛋白22(peripheral nervemyelinprotein 22,PMP22)基因外显子缺失/重复变异情况。结果本家系先证者为中年男性,肌电图提示四肢多发性周围神经病,脱髓鞘继发轴索损害。患者有家族史,基因检测先证者、先证者女儿、先证者哥哥PMP22基因外显子及附近区域存在大片段重复。结论腓骨肌萎缩症临床表现典型,有特征性电生理,PMP22基因外显子大片段重复是确诊金标准,合并糖尿病会加重腓骨肌萎缩症的周围神经损害。Objective The clinical manifestations,imaging features,genetic characteristics and genetic patterns of a family with peroneal muscular atrophy were reported and reviewed in conjunction with the literature.Methods Analysis of family of peroneal muscular atrophy,the proband with diabetes showed progressive symmetry of distal muscle weakness and muscle atrophy,sputum reflexes disappeared or disappeared,and distal sensation decreased for clinical manifestations.Electrophysiological and genetic testing were performed for Proband and the gene exon deletion/repetitive mutation test was performed on other family by multi-link probe amplification technology(MLPA).Results The proband of the family is a middle-aged male..Electrophysiological examination revealed multiple peripheral neuropathy in the extremities,and axonal damage secondary to demyelination.In addition,the patient has a family history,and genetic testing revealed that PMP22 gene exon and the nearby region of the proband,the proband’s daughter,the proband’s brother have large fragment repeats.Conclusion The sacral muscle atrophy has typical clinical manifestations and characteristic electrophysiological results.The large exon fragment repetition of the PMP22 gene is the gold standard for diagnosis.

关 键 词：腓骨肌萎缩症 电生理 PMP22 脱髓鞘 

分 类 号：R745[医药卫生—神经病学与精神病学]