Neuronal intranuclear inclusion disease: a case report and literature review

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. Clinical manifestations of NIIDs vary widely, with familial and sporadic cases reported. The clinical manifestations of NIIDs are highly heterogeneous, complex and diverse, and may present with damage to the corticosphere, pyramidal bundles, extrapyramidal lineages, cerebellum, peripheral nerves, and autonomic nerves. At present, there are no cases in China where skin biopsy and genetic testing have been confirmed at the same time. We reported a case of NIID patient with dementia and behavioral abnormalities as the main clinical features, reviewed the relevant literature, analyzed its clinical characteristics, imaging changes, skin biopsy pathological changes, genetic test results, and reviewed the relevant literature, aiming to help clinicians improve their understanding of NIID.