目的:提高对神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)的临床表现及影像学特征的认识,从而尽早诊断。

方法:报道1例NID的患者临床资料,结合文献复习疾病的临床表现,发病机制,影像学特点,诊断和治疗。

结果:本例患者以认知障碍和共济失调为主要症状,头颅 MRI 见皮髓交界处弥散加权成像高信号,进一步行基因检测确诊为 NIID。

结论:NIID临床表现多样,症状上呈高度异质性。头颅 MRI 存在特征性改变可能是诊断NIID的突破口。还需要完善皮肤活检和基因检测来进行明确诊断。

Objective:To improve the understanding of clinical manifestations and imaging features of neuronal intranuclear inclusion disease (NIID),so as to diagnose it as early as possible.

Methods:The clinical data of one patient with NllD were reported, and the clinical manifestations, pathogenesis, image performance, diagnosis and treatment of NllD were reviewed.

Results:In this case, the main symptoms of the patient were cognitive impairment and ataxia. The MR imaging results showed a high-intensity signal along the corticomedullary junction on diffusion weighted image. Diagnosis was confirmed by further genetic testing.

Conclusions:NIID has highly variable clinical manifestations, with broadly heterogeneous. A specific MR imaging finding has been a useful diagnostic hallmark for NIID. Further skin biopsies and genetic testing are needed to confirm the diagnosis.