Wilson's disease: magnetic resonance imaging (MRI) with clinical correlations in 16 cases

Abstract

The purpose of this study was to evaluate MRI findings in a group of patients with Wilson's disease, trying to establish possible correlations between clinical and image data. Sixteen patients (8 males and 8 females), with ages ranging from 11 to 50 years, and duration of illness ranging from 5 months to 32 years, were submitted to MRI in a 1.5T System. Four patients were asymptomatic, 4 had mild neurological findings, 2 were moderately affected and the remaining 6 had a severe form of the disease. All patients were receiving D-penicillamine by the time of the study. The most symptomatic patients presented five or more sites of abnormalities on MRI. The putamen was affected in all symptomatic individuals and one asymptomatic and 11 of them presented dystonia on neurological examination. A striking feature was the peripheral localization of putaminal hyperintense lesions on T2 weighted images. In eight cases, striatum or "substantia nigra" lesions explained parkinsonism observed on neurological examination. MRI seems to be an efficient method to study neurological involvement of Wilson's disease allowing some interesting anatomo-clinical correlations.