CRANIAL MR-IMAGING IN WILSONS-DISEASE

OBJECTIVE. The purpose of the study was to describe the range of abnor malities seen on cranial MR images of patients with Wilson's disease a nd correlate the findings with clinical severity, duration of disease, and duration of neurologic signs and symptoms before treatment. In th ose patients with serial studies, the changes on MR images were compar ed with the clinical response. SUBJECTS AND METHODS. Twenty-five patie nts with Wilson's disease underwent MR imaging of the brain using conv entional spin-echo sequences (n = 25), phase maps (n = 8), and partial ly refocused interleaved multiple-echo sequences (n = 5). RESULTS. MR imaging findings were abnormal in 22 patients and normal in three pati ents. The basal ganglia were interpreted as abnormal in 19 (86%) of 22 patients, involving the putamen in 19 (86%), the thalami in 12 (54%), the caudate head in 10 (45%), and the globus pallidus in nine (41%). We found a predilection for involvement of the outer rim of the putame n and the ventral nuclear mass of the thalami. The claustrum was abnor mal in three patients. The midbrain was abnormal in 17 (77%) of these 22 patients, affecting predominantly the tegmentum but also the substa ntia nigra, red nuclei, inferior tectum, and crura. The pens was abnor mal in 18 (82%) of 22 patients, and the cerebellum was abnormal in 11 patients (50%), with involvement of the superior and middle cerebellar peduncles. Atrophy was present in 18 (82%) of 22 patients, and cortic al white matter changes were apparent in 13 (59%) of 22 patients. The scan of one untreated patient revealed shortening of the TI relaxation time in the thalami, which was consistent with the paramagnetic effec ts of copper. Phase maps and partially refocused interleaved multiple- echo sequences performed in eight and five patients, respectively, and used to reveal a susceptibility change induced by iron or copper show ed normal findings. We found a significant inverse relationship betwee n severity, but not extent, of change in signal intensity and the leng th of untreated disease (p = .030) and the total duration of disease ( p = .015). The study group was too small to show a correlation with cl inical findings. Changes seen on MR images matched the clinical respon se to treatment in only two of the seven patients who underwent follow -up studies. CONCLUSION. MR imaging revealed abnormalities in the basa l ganglia, cerebral white matter, midbrain, pens, and cerebellum. The paramagnetic effects of copper were detected only in untreated patient s. Patients with a longer duration of disease had less severe changes in signal intensity. MR imaging was of limited value in follow-up.