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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report
Elise Edwards1, Benjamin Coleman1, Matthew Feldman1
1Department of Neurology, University of Miami Leonard M. Miller School of Medicine, Miami, FL 33136, US.
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.
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