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 a-glutamate concentrations. Eight months later, simultaneously with clinical improvement, a-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. [ABSTRACT FROM AUTHOR]