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. PATIENT: 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.
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. PATIENT: 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: S W Hetts; K Keenan; H J Fullerton; W L Young; J D English; N Gupta; C F Dowd; R T Higashida; M T Lawton; V V Halbach Journal: AJNR Am J Neuroradiol Date: 2012-07-05 Impact factor: 3.825
Authors: Iiro Eerola; Laurence M Boon; John B Mulliken; Patricia E Burrows; Anne Dompmartin; Shoji Watanabe; Romain Vanwijck; Miikka Vikkula Journal: Am J Hum Genet Date: 2003-11-24 Impact factor: 11.025