親子間で認めた家族性AVMの1例

A Case Report of Familial AVM

Ⅰ．はじめに

　脳動静脈奇形（arteriovenous malformation：AVM）は胎生早期に発生する先天性異常であるが，家族性AVM（4親等以内の親族に2人以上のAVMの既往がある場合）^{2-4,6,9,11,13,14,21,22,24)}の報告は非常に稀である．今回，われわれは親子間で認められた家族性AVMの症例を経験したため，文献的考察を加えて報告する．

　Genetic analysis of the familials of patients with arteriovenous malformation (AVM) has a significant potential to reveal the etiology of this disease,although neither the detailed etiology nor pathogenesis of AVM has been fully elucidated to date. While a history of AVM is apparent in 2% of stroke patients,familial occurrence of AVM is very rare. We describe an interesting familial case of AVM. This also represents a rare pattern of familial occurrence in that patients are not likely hereditary hemorrhagic telangiectasia (HHT). There is a possibility that such familial AVMs are associated with unknown genes other than HHT genes.