临床诊断神经元核内包涵体病8例的特点及文献复习OACSTPCD

Objective: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 presenta-tion,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,pari-etal,and occipital lobes of the brain tissue,leaving the clinical diagnosis unclear.Further examinations,includ-ing cerebrospinal fluid analysis and immunological tests,were conducted,followed by a brain biopsy for patho-logical analysis.The patient's family history was traced,and whole-exome sequencing and dynamic gene muta-tion testing were performed.The brain biopsy indicated intranuclear inclusion body accumulation,and an abnor-mal 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 neuropathologi-cal examination and dynamic mutation gene testing to facilitate an accurate diagnosis.