Beyond the liver: A pediatric case of neurological deterioration in Wilson’s disease

Abstract

An 11-year-old male presented with progressive neurological decline, including spasticity, dystonia, and cognitive impairment, over the past 2 years. Initial symptoms included drooling, poor handwriting, gait disturbances, slurred speech, emotional changes, and frequent falls, which progressed to severe motor and cognitive deficits, rendering him bedridden and non-verbal. Two years ago, Wilson’s disease was diagnosed based on low serum ceruloplasmin, Kayser–Fleischer rings, magnetic resonance imaging findings showing basal ganglia hyperintensities, and an ATP7B gene mutation. Initial treatment with D-penicillamine, zinc, and pyridoxine was discontinued due to a hypersensitivity reaction, and the regimen was switched to trientine, zinc, and symptom management medications. Despite treatment, his condition worsened with increasing dystonia, spasticity, and choreoathetoid movements, leading to bilateral knee and elbow contractures and dislocation of the left hip joint requiring surgery.