表现为脑后部皮层强化的神经元核内包涵体病1例患者的临床及遗传学分析  

Clinical and genetic analysis of a patient with Neuronal intranuclear inclusion body disease characterized by cortical enhancement in the posterior brain region

作　　者：吴积宝 黄凤珍[1] 曹莉梅[1] 张翼[1] 刘小军[1] 龙江涛[2] 易继平[1] 姚晓喜[1] Wu Jibao;Huang Fengzhen;Cao Limei;Zhang Yi;Liu Xiaojun;Long Jiangtao;Yi Jiping;Yao Xiaoxi(Department of Neurology,the First People′s Hospital of Chenzhou,the First Affiliated Hospital of Xiangnan College,Chenzhou,Hunan 423000,China;Department of Radiology,the First People′s Hospital of Chenzhou,the First Affiliated Hospital of Xiangnan College,Chenzhou,Hunan 423000,China)

机构地区：[1]郴州市第一人民医院神经医学研究所/湘南学院第一附属医院神经内科,郴州423000 [2]郴州市第一人民医院/湘南学院第一附属医院放射科,郴州423000

出　　处：《中华医学遗传学杂志》2024年第8期953-956,共4页Chinese Journal of Medical Genetics

基　　金：湖南省自然科学基金联合基金(2023JJ50382);湖南省卫生健康委科研项目(D202303077714)。

摘　　要：目的探讨1例成人散发型神经元核内包涵体病(NIID)患者的临床、影像学特征及基因检测结果。方法以2023年8月6日就诊于郴州市第一人民医院的1例患者作为研究对象。收集患者的临床信息、神经影像学资料以及基因检测结果,结合文献总结其影像学特点。检测患者NOTCH2NLC基因5′-非翻译区的三核苷酸GGC重复的扩增情况。结果患者表现为发作性脑病,头颅增强磁共振成像表现为急性发作期相关的后部脑皮层强化,基因检测发现其NOTCH2NLC基因5′-非翻译区的三核苷酸GGC重复达97次,确诊为NIID。结论在临床上应关注成人起病NIID患者的增强磁共振表现,局限于后部皮质的强化现象可能是该病急性发作期的特异性表现。ObjectiveTo explore the clinical,imaging,and genetic characteristics of an adult patient with sporadic Neuronal intranuclear inclusion disease(NIID).MethodsA patient who had visited the First People′s Hospital of Chenzhou on August 6,2023 was selected as the study subject.Results of clinical examination,neuroimaging,and genetic testing were retrospectively analyzed along with a literature review.The number of GGC trinucleotide repeats in the 5′-untranslated region of the NOTCH2NLC gene was determined by GC-PCR.ResultsThe patient had presented with episodic encephalopathy,with enhanced magnetic resonance imaging showing enhancement features of the posterior cerebral cortex during the period of acute episode.Genetic testing revealed an increased number of GGC repeats(n=97)in the 5′-untranslated region of the NOTCH2NLC gene,which confirmed the diagnosis of NIID.ConclusionClinical attention should be paid to the enhanced MRI findings of patients with adult-onset NIID,for whom posterior cortical enhancement may be characteristic manifestation during the acute phase of encephalopathy-like episode.

关 键 词：神经元核内包涵体病 磁共振成像 基因检测 

分 类 号：R741[医药卫生—神经病学与精神病学]