Neuronal intranuclear inclusion disease mimicking acute cerebellitis:A case report  

作　　者：Jiao-Jiao Guo Zi-Yi Wang Meng Wang Zong-Zhi Jiang Xue-Fan Yu 

机构地区：[1]Department of Neurology and Neuroscience Center,The First Hospital of Jilin University,Changchun 130021,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2020年第23期6122-6129,共8页世界临床病例杂志

基　　金：Supported by Project of Science and Technology Department of Jilin Province,China,No.20190303181 SF.

摘　　要：BACKGROUND Neuronal intranuclear inclusion disease(NIID)is an unusual autosomal dominant,chronic progressive neurodegenerative disease.The clinical manifestations of NIID are complex and varied,complicating its clinical diagnosis.To the best of our knowledge,this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis(AC)that was finally diagnosed by imaging studies,skin biopsy,and genetic testing.CASE SUMMARY A 63-year-old man presented with fever,gait unsteadiness,dysarthria,and an episode of convulsion.His serum levels of white blood cells and C-reactive protein were significantly elevated.T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis.While we initially considered a diagnosis of AC,the patient’s symptoms improved significantly without special treatment,prompting our consideration of NIID.Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction.Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells.GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID.CONCLUSION For patients with clinical manifestations mimicking AC,the possibility of underlying NIID should be considered along with prompt rigorous examinations.

关 键 词：Neuronal intranuclear inclusion disease Acute cerebellitis Skin biopsy Genetic testing Magnetic resonance imaging Case report 

分 类 号：R741[医药卫生—神经病学与精神病学]