中风与神经疾病杂志2025，Vol.42Issue(2)：174-177,4.DOI:10.19845/j.cnki.zfysjjbzz.2025.0034
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
摘要
Abstract
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 sig-nals 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 hy-perintensity signals in the corticomedullary junction area,the possibility of this disease should be considered,and skin bi-opsy 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Key words
Neuronal intranuclear inclusion disease/Hyperintensity on diffusion-weighted imaging/NOTCH2NLC gene/Skin biopsy/Genetic testing分类
医药卫生引用本文复制引用
吕家华,肖翔宇,吕邵敏,刘瑞寒,孔庆霞..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[J].中风与神经疾病杂志,2025,42(2):174-177,4.基金项目
济宁市重点研发计划(2023YXNS061) （2023YXNS061）
济宁市重点研发计划(2023YXNS227) （2023YXNS227）
