[MRI of the brain as a diagnostic tool in Wilson's Disease.]

The case history of a young patient with Wilson's disease (WD) is presented. The diagnosis of WD was based on increased urinary copper excretion, the presence of Keyser-Fleisher rings, changes observed on MRI of the brain and a remote family history of WD. The patient's parents were distantly related. The MRI showed symmetrically increased signal in the basal ganglia and in the brain stem on protein density and T2 weighted images. Similar changes were later observed in the thalamic nuclei. Signal changes observed on cerebral MRI in WD and their diagnostic and prognostic significance are discussed. The importance of recognising the symptoms of WD is emphasized, as early treatment may prevent death from hepatic failure or permanent damage of the central nervous system.