PROTON MR SPECTROSCOPY AND NEUROPSYCHOLOGICAL TESTING IN ADRENOLEUKODYSTROPHY

PURPOSE: To determine early signs of disease in patients with childhoo d-onset cerebral adrenoleukodystrophy (COCALD) with the use of proton MR spectroscopy. METHODS: Eleven children with posterior COCALD involv ement and three children with anterior COCALD involvement were studied with single-voxel proton MR spectroscopy and neuropsychological testi ng. Findings were compared with those in five healthy control subjects . RESULTS: Areas of abnormal T2 signal intensity in children with COCA LD showed abnormal metabolite ratios relative to those of control subj ects as follows: decreased N-acetylaspartate (NAA)/Creatine (Cr) and N AA/Choline (Ch) and increased Ch/Cr. Metabolite ratios from normal-app earing brain regions in the same patients also were abnormal, with red uced NAA/Cr and NAA/Ch and increased Ch/Cr values. The mean metabolite ratios in normal-appearing regions were between those in the abnormal regions and those found in the control subjects. Statistical comparis on of these ratios with neuropsychological test scores, which are spec ific for anterior and posterior brain functions, showed a significant correlation with the abnormal metabolite ratios. Our results indicate that the normal-appearing brain regions in these patients are metaboli cally abnormal. CONCLUSION: Proton MR spectroscopy could be a useful n oninvasive tool to evaluate extent of disease in patients with COCALD.