A case report of Wilson's disease with rare frontal lobe white matter lesions

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, typically presenting with hepatic dysfunction and bilateral basal ganglia abnormalities on magnetic resonance imaging (MRI). We report an unusual pediatric case of WD in a 13-year-old boy who presented with subtle neuroregression over the course of one year and recent focal seizures. Magnetic resonance imaging revealed prominent frontal-dominant leukoencephalopathy, which initially raised suspicion for Alexander disease. Brain MRI demonstrated extensive, symmetric T2-weighted and FLAIR hyperintensities predominantly affecting the frontal white matter, with involvement extending to the basal ganglia, thalamus, and brainstem. Notable imaging findings included cystic changes within the frontal lesions and areas of restricted diffusion in the cortical and subcortical regions on diffusion-weighted imaging (DWI). The diagnosis was confirmed by the presence of Kayser-Fleischer rings, low serum ceruloplasmin levels, elevated 24-hour urinary copper excretion, and identification of a homozygous pathogenic ATP7B mutation (c.2333G > T). This case demonstrates that WD can radiologically mimic leukodystrophies, underscoring the importance of considering WD in the differential diagnosis of pediatric leukoencephalopathy—even in the absence of classic hepatic or pronounced extrapyramidal findings.