RT Journal Article
SR Electronic
T1 Cerebral White Matter Abnormalities in 6p25 Deletion Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 586
OP 588
VO 27
IS 3
A1 M.S. van der Knaap
A1 M. Kriek
A1 W.C.G. Overweg-Plandsoen
A1 K.B. Hansson
A1 K. Madan
A1 J.S. Starreveld
A1 P. Schotman-Schram
A1 F. Barkhof
A1 S.A.M.J. Lesnik Oberstein
YR 2006
UL http://www.ajnr.org/content/27/3/586.abstract
AB Summary: Submicroscopic deletion of the terminal part of the short arm of chromosome 6, including 6p25, leads to developmental retardation, hearing impairment, ocular dysgenesis, and dysmorphic features. We diagnosed 3 patients referred because of white matter abnormalities of unknown origin. MR imaging showed multifocal areas of abnormal signal and enlarged perivascular spaces in the cerebral white matter that were stable during follow-up. Multifocal white matter abnormalities are most commonly seen in static, nonmetabolic encephalopathies, including chromosomal abnormalities.