Tremor and other hyperkinetic movements (New York, N.Y.) · 2026
Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Edwards Elise, Coleman Benjamin, Feldman Matthew, Charles Jude Hassan, Shpiner Danielle S
Аннотация
BACKGROUND: Liver transplant (LT) is considered curative for Wilson disease (WD) with hepatic failure refractory to medical therapy, particularly when neurologic symptoms are absent.
CASE REPORT: A 29-year-old man with WD developed progressive generalized dystonia five years after LT. He presented with acute-on-chronic neck pain, dysphagia, and dystonic posturing of the neck, trunk, and upper and lower extremities. MRI brain and copper studies were normal. Genetic testing confirmed two heterozygous pathogenic ATP7B variants. Symptoms improved with botulinum toxin injections.
DISCUSSION: Post-LT neurologic complications may arise from copper dysregulation, immunosuppressant neurotoxicity, or unrelated primary dystonia. Early recognition enables effective symptomatic management.
CASE REPORT: A 29-year-old man with WD developed progressive generalized dystonia five years after LT. He presented with acute-on-chronic neck pain, dysphagia, and dystonic posturing of the neck, trunk, and upper and lower extremities. MRI brain and copper studies were normal. Genetic testing confirmed two heterozygous pathogenic ATP7B variants. Symptoms improved with botulinum toxin injections.
DISCUSSION: Post-LT neurologic complications may arise from copper dysregulation, immunosuppressant neurotoxicity, or unrelated primary dystonia. Early recognition enables effective symptomatic management.