面部起病的感觉运动神经元病综合征临床及神经电生理特点分析  

Clinical and electrophysiological characteristics of patients with facial onset sensory motor neuronopathy syndrome

作　　者：杨洵哲[1] 沈东超[1] 胡南 张蕾[1] 樊静 吴伊旻 胡又方 丁青云[1] 管宇宙[1] 刘明生[1] 崔丽英 Yang Xunzhe;Shen Dongchao;Hu Nan;Zhang Lei;Fan Jing;Wu Yimin;Hu Youfang;Ding Qingyun;Guan Yuzhou;Liu Mingsheng;Cui Liying(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Neuroscience Center,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,北京100730 [2]中国医学科学院北京协和医院神经科、中国医学科学院神经科学中心,北京100730

出　　处：《中华神经科杂志》2023年第11期1217-1222,共6页Chinese Journal of Neurology

基　　金：中国科学院战略性先导科技专项(XDB39040100)。

摘　　要：目的探讨面部起病的感觉运动神经元病(FOSMN)综合征的临床特点及电生理特点。方法收集2012年1月至2022年12月在北京协和医院诊断为FOSMN综合征的患者10例,对患者的临床及电生理特点进行分析和总结,同时对患者进行基因检测,明确其基因变异类型。结果10例患者的发病年龄为(56.6±6.5)岁,病程最长达10年。所有患者均以面部及口周麻木为首发症状,伴有瞬目反射异常。感觉神经传导检测共检测神经52条,其中2条正中神经、2条尺神经出现感觉神经动作电位波幅减低。针极肌电图结果均提示神经源性损害,呈现进行性失神经与慢性失神经并存的改变。1例患者全外显子组测序提示SOD1基因4号外显子c.272A>C(p.Asp90Ala)杂合变异。所有患者病情均持续进展,晚期出现呼吸肌受累。结论FOSMN综合征的神经电生理检查具有典型改变,瞬目反射异常为其主要特征,还可合并感觉神经传导异常。Objective To investigate the clinical and electrophysiological characteristics of facial onset sensory motor neuronopathy(FOSMN)syndrome.Methods Ten patients diagnosed with FOSMN syndrome in Peking Union Medical College Hospital from January 2012 to December 2022 were included.The clinical and electrophysiological characteristics of patients were analyzed and summarized,and the genetic testing was also performed in these patients.Results The age of onset was(56.6±6.5)years,and the longest survival duration of disease was 10 years.All patients had numbness around the face and mouth as the first symptom and abnormal blink reflex.A total of 52 sensory nerve conduction nerves were detected,among which 2 median nerves and 2μlnar nerves showed decreased amplitude of sensory nerve action potential.Needle electromyography showed neurogenic lesions,with both progressive and chronic denervation.Whole exome sequencing identified the heterozygous variant c.272A>C in the exon 4 of the SOD1 gene resulting in the amino acid change p.Asp90Ala in 1 patient.In all patients,the disease progressed relentlessly and eventually led to involvement of respiratory muscle.Conclusion FOSMN syndrome is characterized by abnormal blink reflex and sometimes abnormal sensory nerve conduction may be shown on electrophysiologic testing.

关 键 词：FOSMN综合征 电生理学 包涵体 TDP-43 SOD1基因 

分 类 号：R744.8[医药卫生—神经病学与精神病学]