中风与神经疾病杂志2025，Vol.42Issue(10)：942-946,5.DOI:10.19845/j.cnki.zfysjjbzz.2025.0173
表现为反复急性脑炎样发作的成人神经元核内包涵体病1例报告并文献复习
Adult-onset neuronal intranuclear inclusion disease presenting with recurrent acute encephalitis-like episodes:A case report and literature review
王安平 1殷翔 1白晶1
作者信息
- 1. 吉林大学白求恩第一医院神经内科,吉林 长春 130012
- 折叠
摘要
Abstract
Neuronal intranuclear inclusion disease(NIID)is a rare neurodegenerative disorder caused by the ex-pression of expanded GGC repeat sequences in the 5'untranslated region of the NOTCH2NLC gene,with the pathological hallmark of the formation of eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs.Due to the diverse clinical manifestations of patients,NIID was once considered a heterogeneous disease,posing significant chal-lenges to diagnosis.In recent years,with the application of skin biopsy and genetic testing techniques,the diagnostic rate of NIID has been improved,but there is still a lack of unified process for confirmed diagnosis.This article reports a patient with recurrent acute encephalitis-like episodes as the prominent symptom,systematically summarizes and presents the im-aging changes that occurred with the progression of the disease,and finally confirms the diagnosis of NIID through genetic testing,so as to provide a valuable reference for the clinical diagnosis of adult-onset NIID.关键词
神经元核内包涵体病/NOTCH2NLC/炎性反应/神经系统变性疾病/核苷酸重复扩展障碍Key words
Neuronal intranuclear inclusion disease/NOTCH2NLC/Inflammatory response/Neurodegen-erative disease/Nucleotide repeat expansion disorder分类
临床医学引用本文复制引用
王安平,殷翔,白晶..表现为反复急性脑炎样发作的成人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(10):942-946,5.
