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AJNR - American Journal of Neuroradiology

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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

View larger version (71K): [in a new window]   Fig 1. MR imaging of patient 2 at 2 years of age. On the axial T2-weighted (A), T1-weighted (B), and fluid-attenuated inversion recovery (FLAIR) (C) images, multifocal cerebral white matter lesions are visible, many presenting as thin radiating stripes suggesting increased perivascular spaces, some presenting as larger foci. The lateral ventricles are mildly dilated.

View larger version (120K): [in a new window]   Fig 2. MR imaging of patient 3 at 2 years of age. The axial T2-weighted (A) and coronal fluid-attenuated inversion recovery (FLAIR) (B) image show that in this patient, the multifocal white matter abnormalities are more extensive with larger areas of abnormal signal intensity than those in patient 2. In addition, there are radiating stripes compatible with increased perivascular spaces, readily seen on coronal FLAIR images (B). The sagittal T1-weighted images confirm the presence of many enlarged perivascular spaces (C). The corpus callosum is short; the rostrum is missing (D). The cerebellar vermis is small (D). The lateral (A, -B) and fourth ventricles (D) are mildly dilated.