Affiliations: Department of Pediatric Neurology Unit, Arcispedale
Santa Maria Nuova, Reggio Emilia, Italy
Note: [] Correspondence: Dr. Carlo Fusco, Department of Pediatric
Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento 80-42100,
Reggio Emilia, Italy. Tel.: +39 0522295968; Fax: +39 0522295046; E-mail: fusco.carlo@asmn.re.it
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.
