Background/purpose: 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.
Conclusion: 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.
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