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A 17-year-old boy presented with abnormal involuntary movements of 6 months duration. Examination revealed mask-like facies and dystonia affecting the neck and right upper and lower limbs. He also displayed peculiar flexion-extension flapping movements at his left knee joint. This rhythmic, patterned, repetitive, purposeless movement that occurred multiple times throughout the day was distractible and suggestive of stereotypy (Video 1). A diagnosis of Wilson disease was confirmed through the presence of Kayser-Fleischer rings, low serum ceruloplasmin, chronic liver disease, and characteristic MRI findings (Figure). Stereotypies in Wilson disease are a rare phenomenon and are a type of perseveratory behavior secondary to dysfunction of fronto-cortico-basal ganglia-thalamo-cortical loops.1,2
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Submitted and externally peer reviewed. The handling editor was Editor-in-Chief José Merino, MD, MPhil, FAAN.
- Received April 5, 2023.
- Accepted in final form June 6, 2023.
- © 2023 American Academy of Neurology
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