Adult-onset neuronal intranuclear inclusion disease presenting with recurrent acute encephalitis-like episodes： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2025.0173
- VernacularTitle:表现为反复急性脑炎样发作的成人神经元核内包涵体病1例报告并文献复习
- Author:
Anping WANG
1
;
Jing BAI
1
Author Information
1. Department of Neurology， The First Hospital of Jilin University， Changchun 130012， China
- Publication Type:Journal Article
- Keywords:
Neuronal intranuclear inclusion disease;
NOTCH2NLC;
Inflammatory response;
Neurodegenerative disease;
Nucleotide repeat expansion disorder
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(10):942-946
- CountryChina
- Language:Chinese
-
Abstract:
Neuronal intranuclear inclusion disease （NIID） is a rare neurodegenerative disorder caused by the expression of expanded GGC repeat sequences in the 5' untranslated region of the NOTCH2NLC gene， with the pathological hallmark of the formation of eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. Due to the diverse clinical manifestations of patients， NIID was once considered a heterogeneous disease， posing significant challenges to diagnosis. In recent years， with the application of skin biopsy and genetic testing techniques， the diagnostic rate of NIID has been improved， but there is still a lack of unified process for confirmed diagnosis. This article reports a patient with recurrent acute encephalitis-like episodes as the prominent symptom， systematically summarizes and presents the imaging changes that occurred with the progression of the disease， and finally confirms the diagnosis of NIID through genetic testing， so as to provide a valuable reference for the clinical diagnosis of adult-onset NIID.
