中风与神经疾病杂志2024，Vol.41Issue(9)：835-838,4.DOI:10.19845/j.cnki.zfysjjbzz.2024.0159
以震颤起病的成年散发型神经元核内包涵体病1例并文献复习
Adult sporadic neuronal intranuclear inclusion disease with tremor as the initial presentation:A case report and literature review
潘昕 1杨晶晶 1宋金辉1
作者信息
- 1. 湖北医药学院附属襄阳市第一人民医院神经内科,湖北襄阳 441000
- 折叠
摘要
Abstract
Neuronal intranuclear inclusion disease(NIID)is a slowly progressive rare neurodegenerative disease with the pathological feature of the appearance of eosinophilic clear intranuclear inclusions in the nervous system and vis-ceral organs,and it has complex and diverse clinical manifestations and lacks specificity,which often leads to misdiagno-sis or missed diagnosis.In recent years,skin biopsy and genetic testing have provided a basis for the diagnosis of NIID.This article reports a patient with NIID who had upper limb tremor as the main manifestation and was finally diagnosed by genetic testing,analyzes the clinical features of this patient,and summarizes the latest research advances in NIID through literature review,so as to improve the understanding of this rare disease among clinicians.关键词
神经元核内包涵体病/弥散加权成像/皮肤活检/基因检测/震颤Key words
Neuronal intranuclear inclusion disease/Diffusion-weighted imaging/Skin biopsy/Genetic testing/Tremor分类
医药卫生引用本文复制引用
潘昕,杨晶晶,宋金辉..以震颤起病的成年散发型神经元核内包涵体病1例并文献复习[J].中风与神经疾病杂志,2024,41(9):835-838,4.
