ADRENOLEUKODYSTROPHY - A SCORING METHOD FOR BRAIN MR OBSERVATIONS

PURPOSE: To develop a scoring method for brain observations in patient s with X-linked adrenoleukodystrophy. METHODS: One hundred seventy-fiv e brain MR scans in 83 male subjects less than 20 years of age with pr oved biochemical defects were reviewed. A severity score (0 to 34), ba sed on a point system derived from location and extent of disease and the presence of focal and/or global atrophy, was calculated for each e xam. RESULTS: Fifty-five of the 83 patients showed MR findings consist ent with adrenoleukodystrophy. Two major patterns were observed. A pos terior pattern (mean score, 9; range, 0.5 to 25) was present in 80% of patients, and an anterior pattern (mean score, 10; range, 2 to 18) wa s present in 15% of patients. Serial MR imaging, positive for adrenole ukodystrophy in 34 patients (mean follow-up, 23 months; range, 2 month s to 6 years 11 months), showed progressive disease in 52%, progressiv e disease with subsequent stabilization in 18%, stable disease in 24%, and minimal improvement in 6%. CONCLUSION: The adrenoleukodystrophy M R severity scoring method is a measure that can be used with standard MR images. When used in conjunction with clinical parameters, this sto ring method may help define better the natural history of adrenoleukod ystrophy and monitor response to developing therapies.