title: White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
abstract: Proton magnetic resonance spectroscopic data ((1)H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. (1)H-MR spectroscopy, performed in an affected 2-year-old girl with markedly delayed neuromotor development and typical supratentorial white-matter disease (WMD), showed an increase of choline and alpha-glutamate concentrations. Eight months later, simultaneously with clinical improvement, alpha-glutamate had normalised whereas choline remained slightly increased. Active demyelination or increased myelin turnover might contribute to the hitherto unexplained WMD of this rare disorder.
authors.affiliation: Department of Pediatrics, University Hospital of Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany. haeusler@rwth-aachen.de
authors.forename: M
authors.initials: M
authors.lastname: Häusler
authors.forename: D
authors.initials: D
authors.lastname: Anhuf
authors.forename: H
authors.initials: H
authors.lastname: Schüler
authors.forename: V T
authors.initials: VT
authors.lastname: Ramaekers
authors.forename: A
authors.initials: A
authors.lastname: Thron
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: W
authors.initials: W
authors.lastname: Möller-Hartmann
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D001927:Brain Diseases / Q000378:metabolism*; D002794:Choline / Q000032:analysis; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003711:Demyelinating Diseases / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D018698:Glutamic Acid / Q000032:analysis; D006801:Humans; D007223:Infant; D007294:Inositol / Q000032:analysis; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009186:Myelin Sheath / Q000378:metabolism*
chemical_list: D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline