Recurrent gastrointestinal bleeding arising from a jejunal arteriovenous malformation in a child with capillary malformation-arteriovenous malformation syndrome
| Autor: | Jan Smogorzewski, Abigail K. Zamora, Minnelly Luu, Chadi Zeinati, Danuta Nowicki, Dean M. Anselmo, Joseph M Miller |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Recurrent gastrointestinal bleeding Central nervous system lcsh:Surgery Visceral angiography CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 03 medical and health sciences 0302 clinical medicine medicine Telangiectasia Skin Findings business.industry Capillary malformation-arteriovenous malformation lcsh:RJ1-570 Arteriovenous malformation lcsh:Pediatrics lcsh:RD1-811 Bier spots medicine.disease Vascular anomalies medicine.anatomical_structure 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health 030211 gastroenterology & hepatology Surgery medicine.symptom Visceral arteriovenous malformation business |
| Zdroj: | Journal of Pediatric Surgery Case Reports, Vol 60, Iss, Pp 101537-(2020) |
| ISSN: | 2213-5766 |
| 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: | OpenAIRE |
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