神经病学与神经康复学杂志2023，Vol.19Issue(3)：73-78,6.DOI:10.12022/jnnr.2023-0122
成人神经元核内包涵体病1例报道
A case report of adult neuronal Intranuclear inclusion disease
耿介立 1金海峰 1倪小棋 2程云 2吴恒趋 1管阳太3
作者信息
- 1. 上海交通大学医学院附属仁济医院神经内科,上海 200127||上海交通大学附属仁济医院宁波医院(宁波市杭州湾医院)神经内科,浙江 宁波 315327
- 2. 上海交通大学附属仁济医院宁波医院(宁波市杭州湾医院)神经内科,浙江 宁波 315327
- 3. 上海交通大学医学院附属仁济医院神经内科,上海 200127
- 折叠
摘要
Abstract
Objective:To improve the understanding of clinical manifestations and imaging features of neuronal intranuclear inclusion disease(NIID),so as to diagnose it as early as possible.
Methods:The clinical data of one patient with NIID were reported,and the clinical manifestations,pathogenesis,image performance,diagnosis and treatment of NIID were reviewed.
Results:In this case,the main symptoms of the patient were cognitive impairment and ataxia.The MR imaging results showed a high-intensity signal along the corticomedullary junction on diffusion weighted image.Diagnosis was confirmed by further genetic testing.
Conclusions:NIID has highly variable clinical manifestations,with broadly heterogeneous.A specific MR imaging finding has been a useful diagnostic hallmark for NIID.Further skin biopsies and genetic testing are needed to confirm the diagnosis.关键词
神经元核内包涵体病/神经影像/白质脑病Key words
Neuronal intranuclear inclusion disease/Neuroimaging/Leukoencephalopathy引用本文复制引用
耿介立,金海峰,倪小棋,程云,吴恒趋,管阳太..成人神经元核内包涵体病1例报道[J].神经病学与神经康复学杂志,2023,19(3):73-78,6.
