title: MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter.
abstract: Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coefficient (ADC) in the white matter (p<0.01, all). In the gray matter, the MRS properties did not differ significantly from those in controls. The ADC and FA, however, differed significantly as in the white matter, although the differences were less pronounced. This is the first quantitative MR study of the brain in a patient with MDCMD, which revealed that the concentrations of all MRS measured metabolites were decreased only in the white matter. This observation, combined with the DTI observed ADC increases and FA decrease, indicated a presence of vasogenic edema in the white matter.
authors.affiliation: Department of Radiology, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands. p.e.sijens@rad.umcg.nl
authors.forename: P E
authors.initials: PE
authors.lastname: Sijens
authors.forename: J M
authors.initials: JM
authors.lastname: Fock
authors.forename: L C
authors.initials: LC
authors.lastname: Meiners
authors.forename: J H
authors.initials: JH
authors.lastname: Potze
authors.forename: R
authors.initials: R
authors.lastname: Irwan
authors.forename: M
authors.initials: M
authors.lastname: Oudkerk
mesh_terms: D016880:Anisotropy; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry / Q000502:physiology*; D002648:Child; D002794:Choline / Q000378:metabolism; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D007797:Laminin / Q000172:deficiency* / Q000235:genetics*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism* / Q000473:pathology*; D009186:Myelin Sheath / Q000502:physiology
chemical_list: D007797:Laminin; D001224:Aspartic Acid; C000179:N-acetylaspartate; D002794:Choline