Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.
Proton magnetic resonance spectroscopy imaging (MRSI) and serial MRI were performed on a 10-year-old girl with B6 unresponsive cystathionine B-synthase (CBS) deficiency who developed high methionine levels while on betaine therapy. At presentation, T2-weighted sequences showed diffuse white matter (WM) hyperintensity and sulcal effacement, while MRSI metabolite concentrations were normal. Four months later, after the betaine therapy was discontinued and a methionine-restricted diet with vitamin B6, B12, and folate supplementation was initiated, blood methionine levels and MRI findings returned to normal. Normal MRSI at presentation was predictive of a positive outcome despite the markedly abnormal initial MRI results.
Franco
L Patricia
LP
Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
Anderson
Jada
J
Okoh
James
J
Pomper
Martin G
MG
Braverman
Nancy
N
Barker
Peter B
PB
D001921:Brain / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008715:Methionine / Q000097:blood*
D008715:Methionine