Recurrent gastrointestinal bleeding arising from a jejunal arteriovenous malformation in a child with capillary malformation-arteriovenous malformation syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is classically a RASA1 mutation with small CMs and either central nervous system or musculoskeletal AVMs. However, CM-AVM2 has recently been discovered, and is characterized by an EPHB4 mutation to the EPHB4-RAS-ERK pathway. The ski...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Elsevier,
2020-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is classically a RASA1 mutation with small CMs and either central nervous system or musculoskeletal AVMs. However, CM-AVM2 has recently been discovered, and is characterized by an EPHB4 mutation to the EPHB4-RAS-ERK pathway. 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. |
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| Item Description: | 2213-5766 10.1016/j.epsc.2020.101537 |