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

作　　者：李海涛 孙金梅[1] 乔杉杉[1] 杨毅 郭芳[1] 易立[1] 许春玲[1] 杨伊姝[1] 张伟[1] 田园如画 王雷明[2] 杨柳[1] LI Haitao;SUN Jinmei;QIAO Shanshan;YANG Yi;GUO Fang;YI Li;XU Chunling;YANG Yishu;ZHANG Wei;TIAN Yuanruhua;WANG Leiming;YANG Liu(Department of Neurology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China;Department of Pathology,Xuanwu Hospital,Capital Medical University.Beijing 100053,China)

机构地区：[1]首都医科大学附属北京友谊医院神经内科,北京100050 [2]首都医科大学附属宣武医院病理科,北京100053

出　　处：《神经损伤与功能重建》2024年第4期196-200,共5页Neural Injury and Functional Reconstruction

基　　金：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)。

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 presentation,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,parietal,and occipital lobes of the brain tissue,leaving the clinical diagnosis unclear.Further examinations,including cerebrospinal fluid analysis and immunological tests,were conducted,followed by a brain biopsy for pathological analysis.The patient’s family history was traced,and whole-exome sequencing and dynamic gene mutation testing were performed.The brain biopsy indicated intranuclear inclusion body accumulation,and an abnormal 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 neuropathological 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 

分 类 号：R741[医药卫生—神经病学与精神病学] R741.04[医药卫生—临床医学] R742