Abstract

Wilson's disease is a rare autosomal recessive genetic disorder characterized by an abnormal accumulation of copper, particularly in the liver, brain and eyes. The disease results from mutations in the ATP7B gene on chromosome 13, which encodes a copper transport protein essential for copper excretion. We present a case of Wilson's disease in a 21-year-old female patient with significant neurological involvement. Initial brain CT and MRI revealed bilateral and symmetrical capsulolenticular hypodensities and involvement of the basal ganglia and brainstem, respectively. The diagnosis was confirmed by biochemical analysis of copper metabolism. Early detection and copper chelation therapy are crucial to prevent irreversible neurological and liver damage. Neuroimaging plays an essential role in assessing the extent of brain damage and monitoring treatment efficacy.

Key words: Neurologic-Wilson, CT scan, MRI