Published in:
01-01-2005 | Paediatric Neuroradiology
White-matter disease in 18q deletion (18q−) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination
Published in: Neuroradiology | Issue 1/2005
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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.