论文检索
期刊
全部知识仓储预印本开放期刊机构
高级检索

临床诊断神经元核内包涵体病8例的特点及文献复习OACSTPCD

Characteristics of Eight Cases of Clinically Diagnosed Neuronal Intranuclear Inclusion Dis-ease and Literature Review

中文摘要英文摘要

目的:研究神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)患者的临床、影像、神经病理,并总结此类疾病的临床特点.方法:报道1例我院收治的家族性NIID病例的诊疗过程;并检索我院数据库,收集另外7例NIID临床病例,对所有病例从临床表现、影像学表现、神经病理、基因检测等进行总结.结果:本例以"亚急性脑炎"作为起病形式,头部磁共振显示左侧颞、顶、枕叶脑组织肿胀,临床诊断不明;完善脑脊液、免疫相关等检查,行脑组织活检病理分析,同时追踪患者的家族史、全外显子组测序和动态基因突变检测.脑活检提示核内包涵体积聚,并且检测到Notch2NLC基因有异常GGC动态重复突变,结合对家系的跟踪随访及基因检测,最终诊断为家族性NIID.结论:NIID临床表现异质性大,要注意神经病理及动态突变基因检测相结合,有助于明确诊断.

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.

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

首都医科大学附属北京友谊医院神经内科 北京 100050首都医科大学附属宣武医院病理科 北京 100053

临床医学

神经元核内包涵体病;神经病理;亚急性脑炎;Notch2NLC基因

neuronal intranuclear inclusion disease;neuropathology;episodic encephalitis;Notch2NLC

《神经损伤与功能重建》 2024 (004)

196-200 / 5

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)

10.16780/j.cnki.sjssgncj.20230803

评论

下载量:0
点击量:0