title: Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome.
abstract: Intracranial arteriovenous malformations (AVM) are a rare feature of Bannayan-Riley-Ruvalcaba syndrome (BRRS). Palencia et al reported a case of intracranial arteriovenous malformation in a child with BRRS in a Spanish journal in 1986. However, the occurrence of dural AVM in a patient with BRRS has not since been addressed in the literature. Advancements in imaging and therapeutic embolization, and the ability now to screen for phosphatase and tensin homologue (PTEN) mutations allow us to detect and manage these patients sooner. Early detection of intracranial AVMs is necessary because of the risk for progression to venous ischemia and resultant neurologic damage. We present the case of a child with headaches and periorbital venous congestion due to a dural AVM with bilateral venous outflow occlusion who was treated with multiple embolizations, now with interval remission of headache symptoms.
authors.affiliation: Department of Radiology, Children's Hospital, Boston, MA, USA. ravi.srinivasa@beaumont.edu
authors.forename: R N
authors.initials: RN
authors.lastname: Srinivasa
authors.forename: P E
authors.initials: PE
authors.lastname: Burrows
mesh_terms: D020029:Base Pairing / Q000235:genetics; D020785:Central Nervous System Vascular Malformations / Q000175:diagnosis* / Q000235:genetics*; D002533:Cerebral Angiography; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements / Q000235:genetics; D004292:Dominance, Cerebral / Q000502:physiology; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
chemical_list: D004251:DNA Transposable Elements; D051059:PTEN Phosphohydrolase