8例神经元核内包涵体病的临床、影像及电生理特征分析  

Clinical,imaging and electrophysiological characteristics of eightneuronal intranuclear inclusions

作　　者：李庆节 鲍磊 张瑞雪 时宏娟 张沈阳 左丹丹 孟文晴 陈浩 LI Qingjie;BAO Lei;ZHANG Ruixue;SHI Hongjuan;ZHANG Shenyang;ZUO Dandan;MENG Wenqing;CHEN Hao(Department of Neurology,the Affiliated Hospital of Xuzhou Medical University,Xuzhou,Jiangsu 221002,China;Key Laboratory of Brain Disease Bioinformatics of Jiangsu Province,Xuzhou,Jiangsu 221004,China)

机构地区：[1]徐州医科大学附属医院神经内科,江苏徐州221002 [2]江苏省脑病生物信息重点实验室,江苏徐州221004

出　　处：《徐州医科大学学报》2023年第3期170-175,共6页Journal of Xuzhou Medical University

基　　金：江苏省高校省级重点实验室开放课题(XZSYSKF2020010);徐州市卫生健康委2020年度青年医学科技创新项目(XWKYHT20200001);2020年度徐州医科大学附属医院科技发展基金(XYFZ2020008)。

摘　　要：目的 探讨神经元核内包涵体病(NIID)的临床及辅助检查特点,提高对该疾病的认识。方法 回顾性分析2020年1月至2022年1月收治于徐州医科大学附属医院神经内科的经皮肤活检和基因检测确诊的8例NIID患者的临床、影像学、电生理检查资料。结果 8例患者被纳入分析,临床表现有认知障碍6例次、发作性精神症状1例次,肢体无力2例次、自主神经功能障碍6例次、震颤4例次、共济失调4例次。头颅磁共振(MRI)示8例患者弥散加权像(DWI)有皮髓交界区典型“绸带征”,6例有不同程度的脑萎缩。电生理检查示8例患者均存在神经传导异常,其中运动传导速度减慢8例,运动波幅降低1例、感觉传导速度减慢7例,感觉波幅降低2例;皮肤交感反射(SSR)异常7例;4例患者表现出4~7 Hz的同步性震颤。结论 NIID病患者的临床表现多样,中枢和周围神经系统均可受累。头颅MRI具有特征性皮髓交界区典型“绸带征”,电生理检查提示周围神经髓鞘损伤和自主神经损伤突出,部分患者合并有震颤。Objective To explore the clinical features and auxiliary examination of neuronal intranuclear inclusions(NIID),in order to raise awareness toward the disease.Methods A total of 8 NIID patients who were admitted to Department of Neurology,the Affiliated Hospital of Xuzhou Medical University from January 2020 to January 2022,andpathologically and genetically diagnosed were enrolled.Their clinical,imaging and electrophysiological data were retrospective analyzed.Results For the patients enrolled,their clinical manifestations included cognitive impairment in six cases,episodic psychiatric symptoms in one case,limb weakness in two cases,sensory disturbance in one case,autonomic dysfunction in six cases,tremor in four cases,and ataxia in four cases.Magnetic resonance imaging(MRI)showed abnormally high signals of diffusion-weighted image(DWI)along the corticomedullary junction in all eight cases,with brain atrophy to various degree in six cases.According to electrophysiological results,there were abnormal nerve conduction in eight cases,including slowing of motor nerve conduction velocity in eight cases,decreases in motional amplitudein one case,slowing of sensory nerve conduction in seven cases,decreases in sensory amplitude in two cases,and abnormal sympathetic skin response in seven cases.Synchronized tremor(4-7 Hz)was detected in four cases.Conclusions The clinical manifestations of NIID are different,where both the central and peripheral nervous systems are involved.Cerebral MIR shows abnormally high signals along the corticomedullary junction.Electrophysiological results presents obvious peripheral myelin damage and autonomic nerve injury,with tremor in some pateints.

关 键 词：神经元核内包涵体病 认知障碍 自主神经功能障碍 皮肤活检 磁共振 肌电图 皮肤交感反射 

分 类 号：R745.4[医药卫生—神经病学与精神病学]