간헐적 시야장애와 우측 편마비를 동반한 성인 발병 신경세포핵내 봉입체병으로 진단된 증례: 임상적 의의와 진단적 접근법
Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
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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.
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.