Recurrent gastrointestinal bleeding arising from a jejunal arteriovenous malformation in a child with capillary malformation-arteriovenous malformation syndrome

摘要

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is classically aRASA1mutation with small CMs and either central nervous system or musculoskeletal AVMs. However, CM-AVM2 has recently been discovered, and is characterized by anEPHB4mutation to theEPHB4-RAS-ERKpathway. The skin findings favor those of hereditary hemorrhagic telangiectasia with Bier spots and telangiectasias, and the presence of central nervous system and musculoskeletal AVMs mirror classic CM-AVM. To our knowledge, this is the first report of a visceral AVM in CM-AVM2 in the literature. The patient presented with recurrent gastrointestinal bleeds, and after an extensive workup culminating in diagnostic visceral angiography, was found to have a CM-AVM2 with a jejunal AVM.