以震颤及意识障碍为主要表现的神经元核内包涵体病1例报告并文献复习  

Neuronal intranuclear inclusion disease with the main manifestations of tremor and disturbance of consciousness:A case report and literature review

作　　者：吕家华 肖翔宇 吕邵敏 刘瑞寒 孔庆霞[4] LYU Jiahua;XIAO Xiangyu;LYU Shaomin(School of Clinical Medicine,Jining Medical University,Jining 272000,China)

机构地区：[1]济宁医学院临床医学院,山东济宁272000 [2]山东大学齐鲁医学院,山东济南250000 [3]济宁医学院附属医院儿科,山东济宁272000 [4]济宁医学院附属医院神经内科,山东济宁272000

出　　处：《中风与神经疾病杂志》2025年第2期174-177,共4页Journal of Apoplexy and Nervous Diseases

基　　金：济宁市重点研发计划(2023YXNS061);济宁市重点研发计划(2023YXNS227)。

摘　　要：收集济宁市医学院附属医院收治确诊的1例成人散发型神经元核内包涵体病患者的病例资料,患者为老年女性,64岁,临床表现以肢体震颤、发作性意识障碍为主,患者皮肤活检可见嗜酸性包涵体,头部核磁共振弥散序列示皮髓质交界区异常信号,基因检测提示致病基因NOTCH2NLC阳性,诊断为神经元核内包涵体病,给予对症治疗。通过本案例的报道,提示对于存在肢体震颤或发作性意识障碍者,若头部磁共振弥散序列显示皮髓质交界区异常高信号,应考虑到本病的可能,并应行皮肤活检及基因检测明确诊断,以早期治疗、改变患者的病程及预后。Case data were collected from an adult patient with sporadic neuronal intranuclear inclusion disease who were diagnosed in Affiliated Hospital of Jining Medical University.The patient was an elderly woman aged 64 years,with the main clinical manifestations of limb tremor and paroxysmal disturbance of consciousness.Skin biopsy of the patient showed the presence of eosinophilic inclusion bodies,head MRI diffusion sequences showed abnormal hyperintensity signals in the corticomedullary junction area,and genetic testing showed pathogenic genes NOTCH2NLC positive.The patient was diagnosed with neuronal intranuclear inclusion disease and was given symptomatic treatment.This case report suggests that for patients with limb tremor or paroxysmal disturbance of consciousness,if MRI diffusion sequences show abnormal hyperintensity signals in the corticomedullary junction area,the possibility of this disease should be considered,and skin biopsy and genetic testing should be performed to make a confirmed diagnosis,in order to provide early treatment.

关 键 词：神经元核内包涵体病 DWI高信号 NOTCH2NLC基因 皮肤活检 基因检测 

分 类 号：R742.8[医药卫生—神经病学与精神病学]