Unveiling Wilson Disease: Recurrent Seizures as an Initial Presentation

Abstract

Wilson disease is an autosomal recessive disorder caused by pathogenic variants in ATP7B, resulting in impaired copper excretion and progressive copper accumulation in the liver, brain, cornea, and other tissues. Neurologic disease more commonly presents with movement abnormalities, whereas seizures are an uncommon initial manifestation. We report a 32-year-old man with a 2-year history of recurrent generalized tonic-clonic seizures, followed by intention tremor, dysarthria, gait disturbance, and hypersalivation. Serum ceruloplasmin was markedly reduced (6 mg/dL), 24-hour urinary copper excretion was elevated (321 µg/24 h), Kayser-Fleischer rings were present, and brain MRI showed bilateral basal ganglia and midbrain hyperintensities. A Leipzig score of 8 supported the diagnosis of Wilson disease. Treatment with D-penicillamine, zinc acetate, pyridoxine, dietary copper restriction, and levetiracetam was associated with cessation of seizures and improved functional independence over six months. Wilson disease should be considered in young adults with unexplained recurrent seizures accompanied by progressive movement abnormalities or encephalopathy.