| Autor: |
Abigail K. Zamora, Jan Smogorzewski, Chadi Zeinati, Joseph M. Miller, Minnelly Luu, Danuta Nowicki, Dean M. Anselmo |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Journal of Pediatric Surgery Case Reports, Vol 60, Iss , Pp 101537- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2213-5766 |
| DOI: |
10.1016/j.epsc.2020.101537 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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