Cerebral white matter abnormalities in 6p25 deletion syndrome.
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.
van der Knaap
M S
MS
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
Kriek
M
M
Overweg-Plandsoen
W C G
WC
Hansson
K B
KB
Madan
K
K
Starreveld
J S
JS
Schotman-Schram
P
P
Barkhof
F
F
Lesnik Oberstein
S A M J
SA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome