Elsevier

Journal of Pediatric Surgery

Volume 45, Issue 12, December 2010, Pages 2419-2422
Journal of Pediatric Surgery

PAPS Papers
The potential of capillary birthmarks as a significant marker for capillary malformation–arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage

https://doi.org/10.1016/j.jpedsurg.2010.08.043Get rights and content

Abstract

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.

Section snippets

Methods

All patients admitted between January 1991 and September 2009 with a cerebral hemorrhage were identified from the hospital records. The records were examined on the electronic database to determine all those with a cerebral hemorrhage but with no other identifiable cause, such as tumors, trauma, hydrocephalus or prematurity.

Eligible patients were traced by address and phone number and invited to participate in the audit, as approved by the institutional ethics committee (CA29091). From patients

Results

Between January 1, 1991, and September 30, 2009, there were 803 children admitted to the neurology unit with cerebral hemorrhage, with 113 (14%) of these caused by proven AVM after elimination of all those with trauma, tumor, prematurity, and hydrocephalus. Eleven patients died (10%), leaving 102 patients potentially available for analysis. One patient was not contactable because they were overseas, 2 families had poor command of English, precluding telephone interview, and 43 families had no

Discussion

This retrospective audit of patients developing an intracerebral hemorrhage caused by an AVM found that this congenital vascular anomaly accounted for about 13% of admissions to the neurology unit over a 17-year period. Cutaneous CM were present in the index patient or one of his/her extended family in 50% of families that agreed to participate in the audit (29% of AVM patients), suggesting that the probability that these families carry autosomally dominant gene RASA1 mutations is considerable.

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