Researchers at University Medical Centre Utrecht, the Netherlands, reviewed the literature on patients with familial brain arteriovenous malformations (BAVMs), and their age, sex, and clinical presentation were compared with those in population-based patients with sporadic BAVMs. A total of 53 patients were identified in 25 families, including 3 families at the Utrecht center. Mean age at diagnosis of familial cases of BAVM was 27 years (range 9 months to 58 years), and 8 years younger than sporadic cases. Sex incidence and presenting symptoms were similar in familial and sporadic cases. Male: female ratio was 1:1, and presenting symptoms were intracranial hemorrhage in 47%, epilepsy 26%, headache 9%, and focal neurologic deficit in 2%. Clinical anticipation was likely in families with BAVMs in successive generations; children born to a parent with AVM presented at a mean age 22 years younger (17 vs 39 years). [1]
COMMENT. Familal BAVM is rare with only 25 families reported. Familial BAVMs present at a younger age than sporadic cases, and clinical anticipation of the disorder may occur in children with BAVM born to affected parents.
Presenting symptoms, surgical management and outcome of 39 pediatric cases of AVM are reviewed by Klimo P Jr et al. [2, 3]