Beyond the basal ganglia: Rare cortical involvement in a case of Wilson’s disease

Wilson’s disease (WD) is a rare autosomal recessive disorder characterized by impaired copper metabolism, leading to copper accumulation in various tissues, particularly the basal ganglia and brainstem. Neurological manifestations often emerge later than hepatic symptoms and can include dystonia, dysarthria, and dysphagia. We present the case of a 16-year-old boy with severe generalized dystonia and atypical neuroimaging findings. The patient, diagnosed with hepatic WD in 2019, experienced a reemergence of neurological symptoms after discontinuing treatment. Neuroimaging revealed symmetrical T2 and fluid-attenuated inversion recovery hyperintensities in the bilateral caudate and lentiform nuclei, along with unusual cortical and subcortical white matter abnormalities in the frontoparietal lobes. Diffusion-weighted imaging showed restricted diffusion in the bilateral frontoparietal gyri, suggestive of acute cellular injury. This finding, which has rarely been reported in WD, may reflect excessive copper-induced cell injury and inflammation. Our report emphasizes that WD can involve extensive gray and white matter lesions beyond the basal ganglia and brainstem. Therefore, neurologists and radiologists should evaluate suspected WD cases for widespread gray matter and potential white matter abnormalities in addition to basal ganglia lesions.