Isolated neurological symptoms of Wilson's disease manifesting as focal epileptic seizures without hepatic involvement: Insights from a case report.

Abstract

Patients with Wilson's disease, an autosomal recessive disorder caused by ATP7B mutations, present with hepatic and neurological symptoms, including tremors, chorea, personality changes, and rare manifestations such as neuropathy, autonomic dysfunction, headache, and epilepsy. This report describes the case of a 14-year-old man born to consanguineous parents who presented with focal seizures and oromandibular dystonia. A neurological exam revealed left upper limb hypotonia. An electroencephalogram showed right hemisphere epileptiform activity, and magnetic resonance imaging indicated bilateral basal ganglia hyperintensities. An ophthalmological exam revealed an incomplete Kayser-Fleischer ring. Laboratory tests confirmed Wilson's disease with low serum ceruloplasmin (3 mg/dL) and elevated urinary copper excretion (1226 mcg/24 h) levels. Treatment included penicillamine (250 mg/day) and zinc (50 mg bi-daily), along with clonazepam for seizures. Routine follow-ups were recommended. This case highlights the importance of recognizing neurological presentations in patients with Wilson's disease for timely diagnosis and management.