成人散发型神经元包涵体病临床分析
陆梦如1） 梅珊珊2） 武 霄2） 许二赫2）
1）广西医科大学第二附属医院，广西 南宁 530027
2）首都医科大学宣武医院，北京 100053
通信作者：许二赫
【摘要】 目的 分析 6 例不同临床表现的成年起病散发型神经元核内包含体病（NIID）患者，加深临床对该病的认识。方法 收集首都医科大学宣武医院神经内科 2020-09—2021-12 收治的 6 例成年散发型 NIID 患者的临床资料，其中 5 例均经皮肤活检确诊，1 例行脑组织活检，6 例行基因检测。回顾性分析临床特点、头颅 MRI 特点、病理特征、基因检测结果。结果 2 例患者以痴呆为核心症状，3 例以反复发作性头痛为核心症状，1 例以特发性震颤为首发症状。5 例患者头颅 MRI 显示额顶叶为著的双侧额叶皮髓交界区持续存在特异性弥散加权成像曲线状高信号。6 例患者基因长读长测序列均异常。结论 NIID 临床表现多样，痴呆和阵发性脑病是常见的突出表型，对于以不明原因的头痛、震颤为首发临床表现的病例，早期基因检测、头颅影像学与皮肤活检相结合可以明确诊断。
【关键词】 神经元核内包涵体病；痴呆；头痛；特发性震颤；NOTCH2NLC 基因；皮肤病理
【中图分类号】 R741 【文献标识码】 A 【文章编号】 1673-5110 （2022） 04-0415-06
基金项目：广西卫生厅自筹课题（编号：Z2015267）
DOI：10.12083/SYSJ.220117
Clinical analysis of sporadic neuronal inclusion body disease in adults
LU Mengru1） ，MEI Shanshan2） ，WU Xiao2） ，XU Erhe2）
1）The Second Affiliated Hospital，Gugangxi Medical University，Nanning 530027，China
2）Xuanwu Hospital，Capital Medical University，Beijing 100053，China
Corresponding author：XU Erhe
【Abstract】 Objective To analyze six cases of adult-onset sporadic neuronal intranuclear inclusion disease （NIID）with different clinical manifestations，and to deepen the clinical understanding of the disease. Methods The clinical data of 6 diagnosed adult sporadic NIID patients admitted to the Department of Neurology，Xuanwu Hospital of Capital Medical University from September 2020 to December 2021 were collected. Among them，5 cases were confirmed by skin biopsy，1 case underwent brain biopsy，and 6 cases underwent genetic testing. The clinical features，brain MRI features，pathological features，and genetic testing results were retrospectively analyzed. Results Dementia was the core symptom in 2 patients，recurrent headache was the core symptom in 3 patients，and essential tremor was the first symptom in 1 patient. Brain MRI of 5 patients showed persistent specific diffusion-weighted imaging curve-like hyperintensity in the bilateral frontal cortex-medullary junction dominated by fronto-parietal lobes. All 6 patients had abnormal gene long-read sequences. Conclusion The clinical manifestations of NIID are diverse. Dementia and paroxysmal encephalopathy are common and prominent phenotypes. For cases with unexplained headache and tremor as the first clinical manifestation，early genetic testing，head imaging and skin biopsy can be used to confirm the diagnosis.
【Key words】 Neuronal intranuclear inclusion disease；Dementia；Headache；Essential tremor；NOTCH2NLC gene；Skin biopsy
