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李海涛
1
，孙金梅
1
，乔杉杉
1
，杨毅
1
，郭芳
1
，易立
1
，许春玲
1
，杨伊姝
1
，张伟
1
，田园如画
1
，王雷明
2
，杨柳
1
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1. 首都医科大学附
属北京友谊医院神
2. 首都医科大学附
属 宣 武 医 院 病 理
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摘要点击次数
:
671
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全文下载次数
:
692
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中文摘要
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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。
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英文摘要
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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.
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