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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 27:586-588, March 2006
© 2006 American Society of Neuroradiology

Case Report
PEDIATRICS

Cerebral White Matter Abnormalities in 6p25 Deletion Syndrome

M.S. van der Knaap^a, M. Kriek^d, W.C.G. Overweg-Plandsoen^e, K.B. Hansson^f, K. Madan^b, J.S. Starreveld^g, P. Schotman-Schram^h, F. Barkhof^c and S.A.M.J. Lesnik Oberstein^d

^a Department of Child Neurology; the Clinical Cytogenetics Laboratory; VU University Medical Center, Amsterdam, The Netherlands
^b Department of Clinical and Human Genetics; VU University Medical Center, Amsterdam, The Netherlands
^c Department of Radiology; VU University Medical Center, Amsterdam, The Netherlands
^d Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
^e Department of Neurology, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
^f Clinical Cytogenetics Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
^g Department of Pediatrics, Groene Hart HospitalGouda, The Netherlands
^h Department of Pediatrics, Meander Medical Center, Amersfoort, The Netherlands

Address correspondence to Marjo S. van der Knaap, Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands

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.

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