Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.6122
Peer-review started: June 19, 2020
First decision: September 23, 2020
Revised: October 2, 2020
Accepted: November 2, 2020
Article in press: November 2, 2020
Published online: December 6, 2020
Processing time: 165 Days and 5.8 Hours
Neuronal intranuclear inclusion disease (NIID) is an unusual autosomal dominant, chronic progressive neurodegenerative disease. The clinical manifestations of NIID are complex and varied, complicating its clinical diagnosis. To the best of our knowledge, this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis (AC) that was finally diagnosed by imaging studies, skin biopsy, and genetic testing.
A 63-year-old man presented with fever, gait unsteadiness, dysarthria, and an episode of convulsion. His serum levels of white blood cells and C-reactive protein were significantly elevated. T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis. While we initially considered a diagnosis of AC, the patient’s symptoms improved significantly without special treatment, prompting our consideration of NIID. Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction. Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells. GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID.
For patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations.
Core Tip: While the clinical manifestations of neuronal intranuclear inclusion disease (NIID) are highly variable, a patient with NIID whose primary symptoms indicated acute cerebellitis has hitherto never been reported. We document the rare case of a patient with NIID who did not receive any special treatment and eventually recovered completely. Our report provides evidence of acute cerebellar ataxia and bilateral symmetric cerebellar high-intensity signal as clinical and imaging features of NIID, respectively.