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Pediatr Neurol. 2013 Nov;49(5):358-60. doi: 10.1016/j.pediatrneurol.2013.05.010.

Nocturnal headaches and pulsatile cranial mass: the tip of an iceberg.

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  • 1Department of Pediatrics, West Virginia University, Morgantown, West Virginia.

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.

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.

Copyright © 2013 Elsevier Inc. All rights reserved.

PMID:
24139535
[PubMed - indexed for MEDLINE]
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