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Abstract Details

Neuronal intranuclear inclusion disease (NIID) showing positive results on Pittsburgh Compound-B PET imaging
Aging, Dementia, and Behavioral Neurology
P12 - Poster Session 12 (5:30 PM-6:30 PM)
3-005

NIID is a progressive multisystem neurodegenerative disorder characterized by widespread eosinophilic intranuclear inclusions, which are positive for the thioflavin S stain and suggestive of the presence of a beta-sheet-rich structure.

To report a case of neuronal intranuclear inclusion disease (NIID) with positive results on 11C-Pittsburgh compound B (PiB) positron emission tomography (PET) scan.

Case report and literature review.

A 72-year-old man presented to our neurology clinic with a history of progressive memory decline for 1 year, followed by acute cognitive deterioration for 1 month. A score of 21/30 on the Mini-Mental State Examination was recorded, and the clinical dementia rating (CDR) was 1. Brain MRI showed generalized brain atrophy, white matter hyperintensity at bilateral subcortical white matter, and no microbleed on susceptibility-weighted imaging; diffusion-weighted imaging (DWI) revealed only equivocal hyperintense signal at the corticomedullary junction, which was deemed to be not significant at the time. Amyloid imaging with PiB PET scan showed increased uptake, mainly in the prefrontal cortices. Alzheimer’s disease was tentatively diagnosed, and he started taking memantine. However, his cognitive function gradually deteriorated, and the CDR became 4 in 1 year. Episodic encephalopathy also developed. Follow-up brain MRI showed progressive DWI hyperintensity at corticomedullary junction, characteristic of NIID. Skin biopsy demonstrated the presence of ubiquitin staining-positive intranuclear inclusions in the sweat gland epithelial cells and vascular smooth muscle cells. Genetic analysis revealed abnormal GGC repeat expansions in the 5’UTR of the NOTCH2NLC gene, which is pathogenic for NIID.

NIID should be an important differential diagnosis in patients who are positive for PiB PET scan, as the intranuclear inclusion might be detected due to its beta-sheet-rich structure.

Authors/Disclosures
Pu-Tien Chiang, MD (National Taiwan University Hospital)
PRESENTER
Dr. Chiang has nothing to disclose.
Hsin-Hsi Tsai, MD Dr. Tsai has nothing to disclose.