title: Nocturnal headaches and pulsatile cranial mass: the tip of an iceberg.
abstract: BACKGROUND
  Capillary malformation-arteriovenous malformation (CM-AVM) disorder is a newly defined hereditary disorder of the vasculature with typical defining features that include cutaneous capillary malformations associated with high-flow lesions in various other organ systems. Mutations on the RASA1 gene are reported to be associated with a variety of vascular malformations and present with a widely varying phenotype.
  
  
  METHODS
  A healthy 3 year old presented with acute onset of severe nocturnal headaches, nausea, and vomiting associated with a 2-cm pulsatile mass and prominent superficial veins on her forehead. Neuroimaging demonstrated a complex vascular malformation with multiple arteriovenous fistulae and cavernous angiomas present in multiple locations in the brain, but not in any other organ system.
  
  
  RESULTS
  The patient was found to have a mutation of the RASA1 gene, which has not been previously described in the literature.
  
  
  CONCLUSIONS
  This case describes a new RASA1 mutation with a phenotype that has not been previously described with a combination of pial fistulae and intracranial AV fistula in the absence of arteriovenous malformations.
authors.affiliation: Department of Pediatrics, West Virginia University, Morgantown, West Virginia.
authors.forename: Ashlee R
authors.initials: AR
authors.lastname: Smith
authors.forename: Jeff
authors.initials: J
authors.lastname: Carpenter
authors.forename: Paola
authors.initials: P
authors.lastname: Pergami
mesh_terms: D001165:Arteriovenous Malformations / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002196:Capillaries / Q000002:abnormalities*; D002533:Cerebral Angiography; D002675:Child, Preschool; D005260:Female; D006261:Headache / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D019339:Port-Wine Stain / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020729:p120 GTPase Activating Protein / Q000235:genetics
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein