Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
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.
Authors
- Jiyun Lee
- Yunjung Choi (ORCID: https://orcid.org/0000-0002-1296-3096)
- Takeshi Mizuguchi (ORCID: https://orcid.org/0000-0003-4998-1244)
- HanKyeol Kim
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Won‐Joo Kim (ORCID: https://orcid.org/0000-0002-5850-010X)
- Hyunjin Park (ORCID: https://orcid.org/0000-0001-5681-8918)
- Hanna Cho (ORCID: https://orcid.org/0000-0001-5936-1546)
- Hyung Jun Park (ORCID: https://orcid.org/0000-0003-4165-8901)
- Doyeon Kook
Publication Details
- Journal
- Journal of the Korean Neurological Association
- Published
- 2025-04-30
- DOI
- https://doi.org/10.17340/jkna.2024.0073
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Korea National Institute of Health