Cystic hygroma and esophageal atresia with tracheoesophageal fistula: Is there a genetic association?
DOI:
https://doi.org/10.52783/jns.v10.997Keywords:
Tracheoesophageal fistula, Cystic hygroma, Fox gene complexAbstract
Background: Tracheoesophageal fistula (TEF) is associated with many other congenital anomalies like cardiac, renal, and vertebral, but the association with cystic hygroma is very rare.
Case Presentation: We report a neonate, antenatally diagnosed with cystic hygroma of the neck and incidentally diagnosed to have TEF. The baby was operated on after adequate stabilization and the cystic hygroma was managed with injection sclerotherapy. The genetic analysis for the FOX genes complex has been done in this case and the results showed no association between the two.
Conclusion: There is a need for future studies to find out if the association between cystic hygroma and TEF is by chance or if any embryological or genetic cause can be attributed to it.
Downloads
Metrics
References
Shaw-Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. 2010; 53:6-13.
Scott DA. Esophageal Atresia / Tracheoesophageal Fistula Overview. 2009 Mar 12 [Updated 2018 Sep 20]. In: Adam MP AH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. .
Escobar MA Jr, Welke KF, Holland RM, Caty MG. Esophageal atresia associated with a rare vascular ring and esophageal duplication diverticulum: a case report and review of the literature. J Pediatr Surg. 2012; 47:1926-9.
Panda S, Srinivas M, Bajpai M, Sharma N, Singh A, Baidya D, et al. Esophageal atresia, duodenal atresia, and imperforate anus: Triple atresia. J Clin Neonatol. 2015; 4:188-92.
de Jong EM, Felix JF, Deurloo JA, van Dooren MF, Aronson DC, Torfs CP, et al. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol. 2008; 82:92-7.
Gnanavel A DP, Vikram T. Cystic hygroma- A case report and its embryological basis. Anat Physiol. 2015; 5:169. doi:10.4172/2161-0940.1000169.
Chen Y-N, Chen C-P, Lin C-J, Chen S-W. Prenatal ultrasound evaluation and outcome of pregnancy with fetal cystic hygromas and lymphangiomas. J Med Ultrasound. 2017; 25:12-5.
Garabedian MJ, Wallerstein D, Medina N, Byrne J, Wallerstein RJ. Prenatal diagnosis of cystic hygroma related to a deletion of 16q24.1 with haploinsufficiency of FOXF1 and FOXC2 genes. Case Rep Genet. 2012; 2012:490408.
Rao KS, Shenoy T. Anesthetic management of a large cystic hygroma in a newborn. Anesth Essays Res. 2015; 9:270-2.
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Sravanthi Vutukuru, Nitin James Peters, Shivani Dogra, Ram Samujh
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
Terms:
- Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
