Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
- Author:
Doyeon KOOK
1
;
Yunjung CHOI
;
Jiyun LEE
;
Hyung Jun PARK
;
Hanna CHO
;
Hyunjin PARK
;
HanKyeol KIM
;
Takeshi MIZUGUCHI
;
Naomichi MATSUMOTO
;
Won-Joo KIM
Author Information
- Publication Type:Case Report
- From:Journal of the Korean Neurological Association 2025;43(2):100-104
- CountryRepublic of Korea
- Language:Korean
- Abstract: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.
