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