title: Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.
abstract: 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.
authors.affiliation: Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
authors.forename: L Patricia
authors.initials: LP
authors.lastname: Franco
authors.forename: Jada
authors.initials: J
authors.lastname: Anderson
authors.forename: James
authors.initials: J
authors.lastname: Okoh
authors.forename: Martin G
authors.initials: MG
authors.lastname: Pomper
authors.forename: Nancy
authors.initials: N
authors.lastname: Braverman
authors.forename: Peter B
authors.initials: PB
authors.lastname: Barker
mesh_terms: 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*
chemical_list: D008715:Methionine