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 ((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.
Häusler
M
M
Department of Pediatrics, University Hospital of Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany. haeusler@rwth-aachen.de
Anhuf
D
D
Schüler
H
H
Ramaekers
V T
VT
Thron
A
A
Zerres
K
K
Möller-Hartmann
W
W
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*
D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline