MR AND PROTON MR SPECTROSCOPY OF THE BRAIN IN HYPERHOMOCYSTEINEMIA CAUSED BY METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY

MR imaging showed severe atrophy and large areas without myelination i n the brain of a girl with methylenetetrahydrofolate reductase deficie ncy. Proton MR spectroscopy revealed mild signal reduction of N-acetyl aspartate. After treatment with betaine, a second MR imaging study rev ealed a decrease in the size of the hypomyelinated zones that was para lleled by improved clinical status and laboratory findings.