Wilson’s Disease with Severe Neurological Presentation: A Case Report

Abstract

Introduction: Wilson’s disease (WD) is an autosomal recessive disorder that can affect individuals of any age. Neurological involvement is reported in 30%–40% of patients, with dysarthria, ataxia, and dystonia being the primary manifestations. The presence of Kayser-Fleischer (KF) rings is observed in 77.2%–85.2% of cases. Chelation therapy demonstrates a paradoxical response in up to 50% of patients. We report a case of severe neurological presentation without KF rings, exhibiting a paradoxical response to chelation therapy.

Case Presentation: A 23-year-old man with no prior medical history presented with a six-month history of symptoms consistent with vasovagal syncope episodes, followed by ataxia, muscle weakness, dysphagia, sialorrhea, and dysarthria. His condition progressively worsened due to sepsis of pulmonary origin secondary to an aspiration event. Investigations revealed low ceruloplasmin levels, elevated urinary copper, imaging findings consistent with thalamic and lenticular involvement, liver biopsy showing autoimmune hepatitis-like changes and features resembling non-alcoholic fatty liver disease (NAFLD), absence of KF rings, and a paradoxical response to chelation therapy. The disease course was marked by severe dystonia progression and a fatal outcome.

Conclusions: WD is a condition with significant morbidity and a variable clinical spectrum. Isolated neurological involvement without KF rings is uncommon, and outcomes depend on early initiation of copper chelation therapy. However, paradoxical worsening of symptoms due to treatment, as observed in this case, poses an additional challenge.