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.