Häusler M, Anhuf D, Schüler H, Ramaekers V T, Thron A, Zerres K, Möller-Hartmann W
Department of Pediatrics, University Hospital of Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.
Neuroradiology. 2005 Jan;47(1):83-6. doi: 10.1007/s00234-004-1309-9. Epub 2005 Jan 11.
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.
