神经损伤与功能重建2024，Vol.19Issue(4)：196-200,5.DOI:10.16780/j.cnki.sjssgncj.20230803
临床诊断神经元核内包涵体病8例的特点及文献复习
Characteristics of Eight Cases of Clinically Diagnosed Neuronal Intranuclear Inclusion Dis-ease and Literature Review
摘要
Abstract
Objective:To study the clinical,imaging,and neuropathological features of patients with neuronal intranuclear inclusion disease(NIID)and to summarize the clinical characteristics of this disease.Methods:We report the diagnosis and treatment process of a familial NIID case admitted to our hospital.We also searched our hospital database to collect an additional seven NIID clinical cases.All cases were reviewed for clinical presenta-tion,imaging findings,neuropathology,and genetic testing.Results:The reported case initially presented with"subacute encephalitis"and head magnetic resonance imaging(MRI)revealed swelling in the left temporal,pari-etal,and occipital lobes of the brain tissue,leaving the clinical diagnosis unclear.Further examinations,includ-ing cerebrospinal fluid analysis and immunological tests,were conducted,followed by a brain biopsy for patho-logical analysis.The patient's family history was traced,and whole-exome sequencing and dynamic gene muta-tion testing were performed.The brain biopsy indicated intranuclear inclusion body accumulation,and an abnor-mal GGC trinucleotide repeat expansion was detected in the NOTCH2NLC gene.Combining the results of the family follow-up and genetic testing,a final diagnosis of familial NIID was made.Conclusion:The clinical manifestations of NIID are highly heterogeneous.Attention should be paid to the combination of neuropathologi-cal examination and dynamic mutation gene testing to facilitate an accurate diagnosis.关键词
神经元核内包涵体病/神经病理/亚急性脑炎/Notch2NLC基因Key words
neuronal intranuclear inclusion disease/neuropathology/episodic encephalitis/Notch2NLC分类
医药卫生引用本文复制引用
李海涛,田园如画,王雷明,杨柳,孙金梅,乔杉杉,杨毅,郭芳,易立,许春玲,杨伊姝,张伟..临床诊断神经元核内包涵体病8例的特点及文献复习[J].神经损伤与功能重建,2024,19(4):196-200,5.基金项目
北京友谊医院科研启动基金(基于线粒体去乙酰化酶SIRT3通路和厚朴酚改善阿尔茨海默病学习记忆能力的作用及机制研究,No.yyqdkt2020-3) （基于线粒体去乙酰化酶SIRT3通路和厚朴酚改善阿尔茨海默病学习记忆能力的作用及机制研究,No.yyqdkt2020-3）
