EC Clinical and Medical Case Reports

Wilson disease is a rare autosomal recessive disorder of copper metabolism resulting in excessive copper accumulation, primarily in the liver and brain. Neurological involvement is commonly associated with characteristic magnetic resonance imaging (MRI) findings, particularly affecting the basal ganglia. We report the case of an 11-year-old boy with Wilson disease who underwent brain MRI for neurological evaluation. Imaging revealed bilateral and symmetrical signal abnormalities involving the lentiform and caudate nuclei, characterized by hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences, with corresponding hypointensity on T2*-weighted images. These findings were consistent with basal ganglia involvement secondary to Wilson disease. This case highlights the characteristic neuroradiological manifestations of pediatric Wilson disease and underscores the pivotal role of brain MRI in detecting central nervous system involvement, supporting diagnosis, and facilitating appropriate clinical management.

Keywords: Wilson Disease; Magnetic Resonance Imaging; Brain MRI; Basal Ganglia; Lentiform Nucleus; Caudate Nucleus

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