The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.
OBJECTIVE
Capillary malformation-arteriovenous malformation (CM-AVM) is a new autosomal dominant disorder with cutaneous capillary malformations (CM) and high-flow cerebral arteriovenous malformations (AVM). Patients may have Parkes-Weber syndrome. This study determined if cutaneous CM are a significant indicator of CM-AVM in children with cerebral bleeds.


METHODS
Children with cerebral AVMs between 1991 and 2009 were reviewed. A family history of brain hemorrhage, AVMs, or cutaneous birthmarks was elicited. Patients and siblings were examined for CM and a family tree recorded. A brief questionnaire determined the family's opinion regarding screening for this syndrome.


RESULTS
Of 30 families, 1 family had Parkes-Weber syndrome. In 3 families, both patient and relatives had CM. In 9 families, patients had no CM, but relatives had them. One family had hereditary hemorrhagic telangiectasia. From the survey, 80% of families would be concerned about vascular marks, and 87% of families would allow screening for cerebral AVMs.


CONCLUSIONS
A family history of vascular marks may predict families at risk of having a cerebral AVM with hemorrhage. Most families would agree to screening. However, family history and physical examination alone do not confirm CM-AVM but form a useful screening tool to identify families needing further investigations with genetic testing and/or magnetic resonance imaging.
Douglas Stephens Surgical Research Unit, Murdoch Children's Research Institute, Melbourne, Australia.
Desmond
D
Chee
Rod
R
Phillips
Wirginia
W
Maixner
Bridget R
BR
Southwell
John M
JM
Hutson
D001165:Arteriovenous Malformations / Q000150:complications* / Q000235:genetics; D002196:Capillaries / Q000002:abnormalities*; D002543:Cerebral Hemorrhage / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing / Q000523:psychology; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010375:Pedigree; D019339:Port-Wine Stain / Q000235:genetics; D012189:Retrospective Studies; D012867:Skin / Q000098:blood supply*; D013341:Sturge-Weber Syndrome; D020729:p120 GTPase Activating Protein / Q000172:deficiency* / Q000235:genetics
C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein