WILSON'S DISEASE- ATYPICAL RADIOLOGICAL PRESENTATION WITH FRONTAL LOBE INVOLVEMENT

Background: Wilson's disease is a rare autosomal recessive disorder of copper metabolism resulting from mutations in the ATP7B gene. The consequent toxic accumulation of copper primarily affects the liver and brain. While neuroimaging commonly reveals basal ganglia and thalamic involvement, atypical findings such as frontal lobe and white matter tract lesions may indicate early or aggressive disease forms. A Case Report: 17-year-old female presented with progressive neurological symptoms and characteristic Kayser–Fleischer rings. Brain MRI demonstrated symmetrical hyperintensities in the frontal lobes, basal ganglia, and brainstem, along with pathognomonic features of Wilson's disease. Laboratory investigations revealed decreased serum ceruloplasmin and increased 24-hour urinary copper excretion. Initiation of D-penicillamine, zinc acetate, and pyridoxine therapy led to partial neurological improvement. This case illustrates an un Discussion: common neuroimaging pattern of Wilson's disease with prominent frontal cortical and brainstem involvement accompanied by iron deposition. Recognition of such atypical presentations expands the known radiological spectrum and aids differentiation from other white matter disorders. Frontal lobe lesions, in particular, may correlate with executive dysfunction and cognitive impairment. Early diagnosis through clinical suspicion, biochemical evaluation, and MRI is crucial to prevent irreversible neurological damage. Unusual neuroimaging fea Conclusion: tures, including frontal lobe and white matter involvement, should prompt consideration of Wilson's disease in pediatric or adolescent patients presenting with unexplained dystonia or neurological deficits. Timely initiation of chelation therapy can significantly improve outcomes and mitigate long-term morbidity. Enhanced awareness and the use of advanced imaging modalities are vital for early detection and management.