title: Jugular foraminal stenosis in Crouzon syndrome.
abstract: 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.
authors.affiliation: Craniofacial Center, Children's Hospital, Harvard Medical School, Boston, Mass., USA.
authors.forename: D
authors.initials: D
authors.lastname: Martinez-Perez
authors.forename: D L
authors.initials: DL
authors.lastname: Vander Woude
authors.forename: P D
authors.initials: PD
authors.lastname: Barnes
authors.forename: R M
authors.initials: RM
authors.lastname: Scott
authors.forename: J B
authors.initials: JB
authors.lastname: Mulliken
mesh_terms: D000052:Acanthosis Nigricans / Q000175:diagnosis / Q000235:genetics; D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D001139:Arnold-Chiari Malformation / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D001164:Arteriovenous Fistula / Q000175:diagnosis* / Q000601:surgery; D002533:Cerebral Angiography; D002675:Child, Preschool; D003392:Cranial Sinuses / Q000002:abnormalities / Q000473:pathology; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D006801:Humans; D019586:Intracranial Hypertension / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D007427:Intracranial Pressure / Q000502:physiology; D007601:Jugular Veins / Q000002:abnormalities* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D011183:Postoperative Complications / Q000175:diagnosis* / Q000601:surgery; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012086:Reoperation; D012535:Scalp / Q000098:blood supply*; D014690:Venous Pressure / Q000502:physiology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3