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A 41-year-old woman presented with bradykinesia, tremor, and dysarthria 2 years ago and progressively developed to cognitive decline after being treated for Parkinson disease. The dystonia progressed, and eventually she developed akinesia and was unable to speak or walk. After being referred to our hospital, she was diagnosed with Wilson disease (WD) based on the presence of Kayser-Fleischer rings, hypoceruloplasminemia, and ATP7B pathogenic variants (c.2804C>T/p.T935M, c.2975C>T/p.P992L). Neuroimaging revealed abnormalities in the bilateral basal ganglia, thalamus, and brain stem on T2 sequences and hyperintensity along the corticomedullary junction on diffusion-weighted imaging (DWI; Figure, A). DWI high intensity in the corticomedullary junction is the typical feature of neuronal intranuclear inclusion disease.1 The subsequent genetic test ruled out NOTCH2NLC variation, and intranuclear inclusions were not detected in the skin biopsy sample. After treatment with chelating agents and zinc, she made a partial recovery and the DWI high intensity dramatically disappeared (Figure, B).
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Submitted and editor reviewed. The handling editor was Editor-in-Chief José G. Merino, MD, MPhil, FAHA, FAAN.
- Received June 30, 2022.
- Accepted in final form October 18, 2022.
- © 2022 American Academy of Neurology
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