White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination

Proton magnetic resonance spectroscopic data (1H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. 1H-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 α-glutamate concentrations. Eight months later, simultaneously with clinical improvement, α-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. (orig.)