Neuronal intranuclear inclusion disease complicated by acute middle cerebral artery infarction: A case report.

BACKGROUND

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with no prior reports linking it to acute large-vessel cerebral infarction.

METHODS

A 65-year-old man with progressive limb numbness and acute neuropsychiatric symptoms underwent MRI, skin biopsy, and genetic testing.

RESULTS

MRI revealed corticomedullary "ribbon signs" and right middle cerebral artery (MCA) stenosis. Follow - up imaging not only confirmed the occlusion of the MCA accompanied by an infarction in the basal ganglia but also indicated an enlargement of the "ribbon signs". Skin biopsy showed p62-positive intranuclear inclusions; genetic testing identified a NOTCH2NLC GGC expansion (>41 repeats). Despite treatment, the patient died of pneumonia three months post-infarction.

CONCLUSIONS

This single-case, first-reported observational study of NIID with large-vessel stenosis illustrates a potential vasculopathic link. While robust histopathological validation is pending, the temporal correlation between NIID progression and vascular events warrants further investigation.