Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review.

ABSTRACT:

Introduction

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report a case of adult-onset NIID with DWI hyperintensities at the corticomedullary junction.

Case presentation

A 72-year-old woman presented with progressive memory deterioration starting 9 years ago. In the third year, MRI showed extensive white matter lesions and brain atrophy, with focal high signal intensity in the corticomedullary junction of the frontal lobe; however, this was overlooked. The patient was clinically diagnosed with Alzheimer's disease. In the seventh year, the pati

SUBMITTER: Huang Z 

PROVIDER: S-EPMC12352206 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature