文章摘要
8例临床诊断神经元核内包涵体病的特点及文献复习
Characteristics and Literature Review of 8 Cases of Clinical Diagnosis of Neuronuclear Inclusion Body Disease
投稿时间:2024-03-22  修订日期:2024-03-22
DOI:
中文关键词: 神经元核内包涵体病  神经病理  亚急性脑炎  Notch2NLC基因
英文关键词: Neuronal intranuclear inclusion disease, Neuropathology, Episodic encephalitis, Notch2NLC
基金项目: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
作者单位邮编
李海涛 首都医科大学附属北京友谊医院 100050
孙金梅 首都医科大学附属北京友谊医院 
乔杉杉 首都医科大学附属北京友谊医院 
杨毅 首都医科大学附属北京友谊医院 
郭芳 首都医科大学附属北京友谊医院 
易立 首都医科大学附属北京友谊医院 
许春伶 首都医科大学附属北京友谊医院 
杨伊姝 首都医科大学附属北京友谊医院 
张伟 首都医科大学附属北京友谊医院 
田园如画 首都医科大学附属北京友谊医院 
王雷明 首都医科大学附属宣武医院 
杨柳 首都医科大学附属北京友谊医院 
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中文摘要:
      目的 本文研究不同临床表现的神经元核内包涵体病(Neuronal Intranuclear Inclusion Disease ,NIID)患者的临床、影像、脑病理及总结此类疾病的临床特点。方法 我们先描述以“亚急性脑炎”作为起病形式的家系先证者病例,影像学显示左侧颞、顶、枕叶脑组织肿胀,临床诊断棘手,为此我们对脑活检标本进行了比较详细的病理分析。本研究涉及到了脑脊液病原学、免疫学、脑活检病理学等,影像学特征包括FDG-PET、Aβ-PET,基因检测等较为全面地展示了诊断及鉴别的过程。另外我们还总结了另外7例临床诊断NIID的病例特点,最后进行国内外以“脑炎”作为起病形式的NIID的文献复习,从而为诊治此类疾病提供一定的临床价值。结果 脑活检表明泛素和P62染色提示核内包涵体的积聚,并且检测到Notch2NLC基因具有异常GGC动态重复突变。随后我们对家系进行了跟踪随访及基因检测,最终被诊断为家族性神经元包涵体病。结论 临床中NIID临床异质性大,要注意皮肤神经病理及动态突变基因检测相结合明确诊断神经元核内包涵体疾病。
英文摘要:
      Objective This article studies the clinical, imaging, brain pathology, and summarizes the clinical characteristics of familial neuronuclear inclusion bodies in patients with “subacute encephalitis”. Methods We describe a case of a family proband with "subacute encephalitis" as the onset form. Imaging showed swelling of left temporal, parietal, and occipital brain tissue, making clinical diagnosis difficult. Therefore, we performed brain biopsy specimens. More detailed pathological analysis. The diagnosis of the proband in this family involves cerebrospinal fluid etiology, immunology, brain histopathology, etc. Imaging features including FDG-PET, Aβ-PET, and genetic testing comprehensively demonstrate the process of diagnosis and identification. In addition, we also summarized the characteristics of 7 other clinical cases diagnosed with NIID, and finally reviewed the literature on NIID with encephalitis as the onset form both domestically and internationally, providing certain clinical value for the diagnosis and treatment of such diseases. Result The results showed that ubiquitin and P62 staining suggested the accumulation of intranuclear inclusion bodies, and the Notch2NLC gene was detected to have abnormal GGC dynamic repeat mutations. We then conducted follow-up and genetic testing on the family, and were finally diagnosed with familial neuronal inclusion disease. Conclusion In clinical practice, there is significant heterogeneity in NIID, and it is important to pay attention to the combination of skin nerve pathology and dynamic mutation gene detection for a clear diagnosis of neuronal intranuclear inclusion body disease.
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