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AJNR: American Journal of Neuroradiology logoLink to AJNR: American Journal of Neuroradiology
. 1997 Mar;18(3):536-9.

MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.

V Engelbrecht 1, M Rassek 1, J Huismann 1, U Wendel 1
PMCID: PMC8338395  PMID: 9090418

Abstract

MR imaging showed severe atrophy and large areas without myelination in the brain of a girl with methylenetetrahydrofolate reductase deficiency. Proton MR spectroscopy revealed mild signal reduction of N-acetylaspartate. After treatment with betaine, a second MR imaging study revealed a decrease in the size of the hypomyelinated zones that was paralleled by improved clinical status and laboratory findings.

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