J Korean Neurol Assoc.
2025 May;43(2):100-104. 10.17340/jkna.2024.0073.
Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
- Affiliations
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- 1Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- 2Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- 3Department of Pathology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- 4Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea
- 5Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
- KMID: 2567417
- DOI: http://doi.org/10.17340/jkna.2024.0073
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.
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