title: Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome.
abstract: Morphologic and metabolic abnormalities in six children aged 2-9 years with carbohydrate-deficient glycoprotein (CDG) syndrome were assessed by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). In all patients, MRI revealed pronounced cerebellar atrophy. Follow-up examinations in two patients suggested early onset and rapid progression in the first years of life. Further pathologies comprised Dandy-Walker malformation, atrophy of the pons, brain stem and olives, supratentorial frontotemporal cortical atrophy, slightly dilated ventricles and a small corpus callosum. Two patients presented with small cysts in the white matter. The prominent metabolic abnormality detected by proton MRS in five patients was a reduction in N-acetylaspartate in white matter by more than 20%, indicating loss of vital neuroaxonal tissue. Further findings in white matter were glutamine and gamma-aminobutyrate increases by a factor of 2. One patient with type III CDG syndrome showed the most severe alterations of metabolite concentrations.
authors.affiliation: Kinderklinik, Schwerpunkt Neuropädiatrie, Universität Göttingen, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Holzbach
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: G
authors.initials: G
authors.lastname: Helms
authors.forename: W
authors.initials: W
authors.lastname: Hänicke
authors.forename: J
authors.initials: J
authors.lastname: Frahm
mesh_terms: D001284:Atrophy; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D005260:Female; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
chemical_list: D005973:Glutamine; D005680:gamma-Aminobutyric Acid