目的:探讨神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)的临床特征。

方法:报道1例表现为特发性震颤的成人 NIID 的临床资料,包括头颅 PET-MRI、皮肤活检基因检测结果等,并结合相关文献进行分析。

结果:患者以左手的特发性震颤为主要临床症状,不伴有认知功能障碍及自主神经功能障碍头颅 PET-MRI 提示颅内多发脑白质变性(脑室周围白质高信号评分3级,深部白质高信号评分3级):皮肤活检显示光镜下苏木精-伊红(hematoxylin and eosin staining,HE)染色送检皮肤组织汗腺导管上皮细胞核内未见包涵体结构,免疫组化提示汗腺导管上皮细胞核内未见p62 阳性包涵体:检测基因 NOTCH2NLC 发现1个等位基因为 GGC 22次重复,另一个等位基因为 GGC 115次重复,理论上可能致病。

结论:NIID 临床表现各异,根据头颅 MRI、皮肤活检及基因检测可协助诊断,但是目前无特异性的治疗方法。

Objective: To investigate the clinical features of neuronal intranuclear inclusion disease(NIID).

Methods: The clinical data of a NllD patient presenting with essential tremor, including head PET-MRl, skin biopsy, and genetic testing, were reported in conjunction with the relevant literature.

Results: The patient presented with essential tremor of the left hand as the main clinical symptom, without cognitive impairment and autonomic neuropathy. The cranial PET-MRl showed multiple intracranial white matter degeneration (PVH grade 3, DWMH grade 3),and skin biopsy showed no inclusion bodies within the sweat gland duct epithelial nuclei of skin tissue stained with light microscopy H&E, and immunohistochemistry showed no p62-positive inclusion bodies within the sweat gland duct epithelial nuclei, and the detectable gene NOTCH2NLC showed 22 repeats of one allele of GGC and 115 repeats ofthe other allele of GGC, which could theoretically be pathogenic.

Conclusion: Clinical manifestations of NIID vary from each other, the brain MRl and skin biopsy and genetic testing can assist in diagnosis, but there is no specific treatment method currently.