MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation.

BACKGROUND AND PURPOSE: Although brain MR imaging findings in adult Wilson disease have been described in considerable detail, a paucity of information currently exists regarding brain MR imaging findings in pediatric Wilson disease. The purpose of this study was to analyze the brain MR imaging findings in Wilson disease of childhood at the initial stage and during follow-up after treatment and to correlate these observations with clinical response.

METHODS

We evaluated 50 patients with pediatric Wilson disease. Fifty initial and 20 follow-up MR images from 15 patients following penicillamine treatment were analyzed retrospectively, and the data were correlated with clinical findings.

RESULTS

Patients were categorized into 3 groups on the basis of initial MR imaging findings. Group I (n = 23) showed normal MR imaging findings. Group II (n = 15) was characterized by T1-weighted images with increased signal intensity in the globus pallidus (n = 15, 100%) followed by the putamen, midbrain, and caudate nucleus. Group III (n = 12) demonstrated T2-weighted images with increased signal intensity in the putamen (n = 10, 83%), followed by the caudate nucleus, globus pallidus, thalamus, midbrain, and pons. There was a significant difference in mean age, the presence of neurologic symptoms, and Child-Pugh classification among the 3 groups (P < .001). Following copper chelating therapy, the changes on follow-up MR imaging were strongly correlated with clinical response to treatment (P < .001).

CONCLUSION

Brain MR imaging in children with Wilson disease can be categorized into distinct groups and demonstrated a significant correlation with clinical findings. Interval changes on follow-up MR imaging were also closely correlated with clinical findings and helpful in assessing the clinical response.