Jugular foraminal stenosis in Crouzon syndrome

We describe a 4-year-old boy with Crouzon syndrome, with associated acanthosis nigricans and Chiari-I malformation, who developed increased intracranial pressure necessitating posterior cranial expansion. Postoperatively, an arteriovenous fistula appeared over the mastoid region. Cerebral angiography demonstrated bilateral atresia of the jugular veins and occlusion of the left sigmoid and right transverse sinuses. We propose that increased intracranial venous pressure, secondary to bilateral jugular foraminal stenosis, caused hydrocephaly and venous dilation in the scalp vasculature. The latter set the stage for a traumatic arteriovenous fistula of the scalp, probably resulting from laceration of an adjacent artery and vein. Jugular atresia is a basilar malformation common to achondroplasia and certain eponymous syndromic craniosynostoses. Our patient has a mutation in fibroblast growth factor receptor 3, a different locus in the same gene mutated in achondroplasia.