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Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency.
- Source :
-
Brain & development [Brain Dev] 2007 Jul; Vol. 29 (6), pp. 357-64. Date of Electronic Publication: 2006 Dec 15. - Publication Year :
- 2007
-
Abstract
- Congenital muscular dystrophy (CMD) due to merosin (laminin alpha2 chain) deficiency is an autosomal recessively inherited disorder characterized by severe muscular weakness and hypotonia from birth on. Brain involvement is the rule and characterized by variable T2 hyperintensities of white matter which appears swollen on cranial MRI. The pathophysiology of these white matter changes is not clear. In five patients with laminin alpha2 deficient CMD we performed short-echo time localized proton MRS with determination of absolute metabolite concentrations in grey and white matter. In affected white matter, a consistent pattern of metabolites was detected comprising reduced concentrations of N-acetylaspartate and N-acetylaspartylglutamate, creatine, and phosphocreatine, and to a milder degree of choline-containing compounds. In contrast, concentrations of myo-inositol were in the normal range. Spectra of cortical and subcortical grey matter were normal. The observed metabolite profile is consistent with white matter edema, that is reduced cellular density, and relative astrocytosis. This interpretation is in line with the hypothesis that laminin alpha2 deficiency results in leakage of fluids across the blood-brain barrier and a histopathological report of astrocytic proliferation in CMD.
- Subjects :
- Adolescent
Aspartic Acid analogs & derivatives
Aspartic Acid metabolism
Child
Child, Preschool
Creatine metabolism
Dipeptides metabolism
Humans
Infant
Magnetic Resonance Imaging methods
Male
Muscular Dystrophies pathology
Muscular Dystrophies physiopathology
Phosphocreatine metabolism
Cerebral Cortex metabolism
Laminin deficiency
Magnetic Resonance Spectroscopy
Muscular Dystrophies diagnosis
Muscular Dystrophies metabolism
Protons
Subjects
Details
- Language :
- English
- ISSN :
- 0387-7604
- Volume :
- 29
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Brain & development
- Publication Type :
- Academic Journal
- Accession number :
- 17174499
- Full Text :
- https://doi.org/10.1016/j.braindev.2006.11.003