Dilated Virchow-Robin spaces mimicking white matter disease in a XYY syndrome

Abstract

This is a report of a child with the 47,XYY karyotype and bilateral high-intensity focal lucencies in the periventricular white matter upon magnetic resonance imaging. We discuss the significance of these findings with respect to possible etiologies, and conclude that they may be characterized as giant perivascular spaces. To our knowledge, this is the first demonstration of giant perivascular spaces concurrent with the aberrant 47,XYY karyotype. Evidence of large perivascular spaces in children requires particular caution because they could cause obstruction of the cerebrospinal fluid outflow. Although giant perivascular spaces may be found in inflammatory brain disease, perivascular myelin pathology or obstruction of lymphatic drainage, extended clinical and laboratory investigation and a detailed chromosomal analysis are always recommended when this rather frequent neuroradiological finding is encountered in children.

Keywords

47 - XYY karyotype - XYY syndrome - chromosomes - Virchow-Robin spaces - leukodystrophy