Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation
- 1 March 2021
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in PEDIATRICS
- Vol. 147 (3)
- https://doi.org/10.1542/peds.2020-011601
Abstract
Mutations in the RASA1 gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with RASA1 mutation presenting with hydrops fetalis and chylothorax, but without an associated AVM. Previously, researchers studying rodents have found chylothorax associated with RASA1 mutations, and, in previous case reports, researchers have reported on infants with RASA1 mutations born with hydrops fetalis and AVMs. In this report, we describe the case of a “late preterm” female infant born with nonimmune hydrops fetalis and congenital chylothorax who was detected to have a RASA1 deletion on genetic workup. Although classically described phenotypes of RASA1 mutations present with venous malformations, no such malformations were found in this infant on extensive imaging. This combination is a novel and nonclassic presentation of RASA1 mutation. In cases of congenital chylothorax, especially with nonimmune hydrops fetalis, RASA1 mutations should be considered as part of the differential diagnosis and genetic testing should be included as part of a complete workup to allow for screening for associated vascular anomalies.This publication has 11 references indexed in Scilit:
- Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndromePediatric Dermatology, 2019
- A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East AsiaHereditas, 2018
- Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformationEuropean Journal of Human Genetics, 2018
- RASA1 regulates the function of lymphatic vessel valves in mice.JCI Insight, 2017
- Congenital chylothoraxSeminars in Fetal and Neonatal Medicine, 2017
- Endothelial Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 Is Critical for Lymphatic Vascular Development and FunctionMolecular and Cellular Biology, 2016
- RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndromeAmerican Journal of Medical Genetics Part A, 2016
- Chylothorax in Infants and ChildrenPEDIATRICS, 2014
- Neonatal Lymphatic (Chylous) DisordersNeoReviews, 2013
- RASA1 maintains the lymphatic vasculature in a quiescent functional state in miceJCI Insight, 2012