title: Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula.
abstract: We report a case of a 45-year-old woman known to have a familial form of blue rubber-bleb nevus syndrome (BRBNS). The patient developed severe occipital headaches and bilateral retroauricular bruits. Cerebral angiography showed a large dural arteriovenous fistula in the torcular region. Central nervous system involvement in BRBNS is not often reported, and most cases of BRBNS are sporadic.
authors.affiliation: Department of Neuroradiology, Hospitais da Universidade de Coimbra, Portugal.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Carvalho
authors.forename: Vieira
authors.initials: V
authors.lastname: Barbosa
authors.forename: Nuno
authors.initials: N
authors.lastname: Santos
authors.forename: Egidio
authors.initials: E
authors.lastname: Machado
mesh_terms: D020785:Central Nervous System Vascular Malformations / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002533:Cerebral Angiography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications*; D018329:Nevus, Blue / Q000150:complications / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*