Objective The aim of this paper was to investigate the clinical and pathological features of sporadic adult-onset neuronal intranuclear inclusion disease(NIID)and to improve the understanding and diag-nosis of this disease.Methods The clinical data,imaging manifestations,genetic test results,and skin biopsy pathology results of five patients with NIID diagnosed at the First People's Hospital of Huizhou City from A-pril 2021 to April 2023 were retrospectively analyzed.Results Among the 5 patients,3 were male and 2 were female,with an average age of 59.6 years at onset.The main clinical manifestations were fever,altered con-sciousness,speech disorder,limb weakness,etc.MRI of the head showed extensive white matter hyperinten-sity on T2-weighted images,and some were accompanied by other abnormalities,such as cerebral atrophy,hy-drocephalus,and cerebral microhemorrhage.Genetic testing found that all 5 patients had NOTCH2NLC gene GGC repeat expansion with more than 40 copies.Electron microscopy revealed fine-fibril-like low-density in-clusion bodies in individual nuclei.HE staining and immunohistochemistry showed a few sweat gland nuclei with eosinophilic and ubiquitin P62-positive inclusion bodies consistenting with typical NIID pathological fea-tures.The lesions of the four patients were mainly distributed in the peripheral and central nervous system and internal organs,and the main pathological change was the formation of intranuclear eosinophilic transparent in-clusions.The results showed that the number of monocytes and lymphocytes in the cerebrospinal fluid of all the five patients increased significantly.In one patient,the number of cells and protein levels in the cerebrospi-nal fluid both increased,indicating that the occurrence of the disease was related to autoimmune encephalitis.The rest of the tests and treatment were not special.Conclusion NIID is a rare neurodegenerative disease with multisystem involvement,characterized by diverse clinical manifestations,characteristic imaging and high sen-sitivity of genetic testing.Genetic testing and dermatopathologic examination are necessary for the diagnosis of this disease and important to explore its pathogenesis.
关键词
神经元核内包涵体病/NOTCH2NLC基因/脑白质高信号/嗜酸性包涵体
Key words
Neuronal intranuclear inclusion disease/NOTCH2NLC gene/Cerebral white matter high signal/Eosinophilic inclusion bodies
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