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American Journal of Neuroradiology, Vol 18, Issue 3 536-539, Copyright © 1997 by American Society of Neuroradiology


ARTICLES

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

V Engelbrecht, M Rassek, J Huismann and U Wendel
Institute of Diagnostic Radiology, Heinrich-Heine University Dusseldorf, Germany.

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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D. L. Smith and O. A. Bodamer
Practical Management of Combined Methylmalonicaciduria and Homocystinuria
J Child Neurol, May 1, 2002; 17(5): 353 - 356.
[Abstract] [PDF]