CRANIAL MR FINDINGS IN WILSONS-DISEASE

Purpose: To define various cranial MR appearances in Wilson's disease (WD). Material and Methods: MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six patients were asympto matic siblings. Three other patients had isolated hepatic involvement, one with no symptoms. The remaining 21 patients had neurological invo lvement, 7 of whom had the mixed form of the disease. Nine patients ha d hepatic dysfunction, the 3 with isolated hepatic involvement and 6 o f the 7 with the mixed form. Results: All symptomatic patients (n=23) had abnormal MR examinations. Atrophy was present in the majority of t hem. The most frequently involved sites were putamen (18/21) and pens (18/21) in patients with neurological abnormality. The putaminal lesio ns showed a consistent pattern of symmetric, bilateral, concentric-lam inar T2 hyperintensity. Putaminal lesions were lacking in only 3 patie nts with neurological involvement, all of whom were relatively old and had had the disease for a longer duration. Most of the patients with hepatic dysfunction (8/9) had increased T1 signal intensity in the bas al ganglia, particularly in the globus pallidus. Pontine involvement a lways included the dorsal aspect of the pens, however, in some cases t he central portion of pens was also affected but ventrolateral longitu dinal fibers were spared. Midbrain (16/21), thalamic (10/21) and cauda te nucleus lesions (9/21) were also encountered. In a few patients cor tical and subcortical white matter lesions were present with a predile ction to the frontal lobe, particularly the precentral region. In one patient, a hemorrhagic focus was identified within the white matter le sion. Conclusion: On T2-weighted images, WD is suggested by: atrophy; putaminal lesions with a pattern of symmetric, bilateral, concentric-l aminar T2 hyperintensity; and the involvement of the pars compacta of the substantia nigra, periaqueductal gray matter, the pontine tegmentu m and the thalamus. The hepatic component of WD may cause increased T1 signal intensity in basal ganglia. In the adult age group, the basal ganglia lesions may be different from those in the pediatric group; th e putaminal lesions may not be present; the globus pallidus and substa ntia nigra may show increased hypointensity on T2-weighted images. Cor tical and subcortical lesions may also be present with a predilection to the frontal lobe.