以卒中样发作为主要表现的神经元核内包涵体病1例  

Neuronal intranuclear inclusion disease presented with stroke-like onset: a case report

作　　者：王慧芬[1] 李冠肸 庞效敏 王娟[1] 赵荣娟 畅雪丽[1] 郭军红[1] 张炜[1] Wang Huifen;Li Guanxi;Pang Xiaomin;Wang Juan;Zhao Rongjuan;Chang Xueli;Guo Junhong;Zhang Wei(Department of Neurology,the First Hospital of Shanxi Medical University,Taiyuan 030001,China)

机构地区：[1]山西医科大学第一医院神经内科,太原030001

出　　处：《中华神经科杂志》2023年第12期1414-1418,共5页Chinese Journal of Neurology

摘　　要：神经元核内包涵体病(NIID)是一种以中枢、周围神经系统及外周组织细胞核内出现嗜酸性透明包涵体为特征的少见的神经系统变性病。临床表现复杂多样,包括认知障碍、肌无力、发作性症状、运动障碍及自主神经功能障碍。本文报道1例经基因检测确诊的以卒中样发作为主要表现的神经元核内包涵体病。患者为62岁女性,急性起病,表现为发作性失语、失写、失读,不伴发热、头痛、恶心、呕吐等症状,既往诊断为短暂性脑缺血发作。通过本病例资料的复习,提高对卒中样发作为主要表现的NIID的认识,避免误诊。Neuronal intranuclear inclusion disease(NIID)is a neurodegenerative disease,characterized by eosinophilic transparent inclusions in the central and peripheral nervous systems,and internal organs.NIID clinical characteristics are varied,including cognitive impairment,muscle weakness,episodic symptoms,movement disorders and autonomic dysfunction.This article reports a patient with NIID who manifested with episodes of aphasia,dysgraphia and dyslexia without fever,headache,nausea and vomiting confirmed by genetic testing.The patient was a 62-year-old female with acute onset who was diagnosed with transient ischemic attack.This article aims to improve the knowledge of NIID with stroke-like onset by this case presentation and avoid misdiagnosis.

关 键 词：脑卒中 短暂性脑缺血发作 神经元核内包涵体病 NOTCH2NLC基因 

分 类 号：R743.3[医药卫生—神经病学与精神病学]