A Rare Association of Right-sided Congenital Diaphragmatic Hernia and Encephalocele: A Case Report

Document Type : Case Report

Authors

Pediatrics Ward, Birjand University of Medical Sciences, Birjand, South Khorasan, Iran

Abstract

Background: This is a case report regarding a 2051-gram female newborn affected by right-sided congenital diaphragmatic hernia (CDH) presenting with encephalocele in the occipital region.
Case report: The newborn was delivered by a 38-year-old mother from Darmian city, a rural district located in South Khorasan province, Iran.
Conclusion: The CDH is an abnormality that rarely occurs with an approximate ratio of one in 3000 live births. It has been reported that 85% of the infants affected by this condition are left-sided and the classic posterolateral or Bochdalek hernia is the most common form. An incidence of 40%–50% has been reported regarding the other malformations associated with CDH, the most common of which are those involving the central nervous system. Some studies reported other rare associated abnormalities, including hepatopulmonary fusion, hypoplastic left heart syndrome, left heart hypoplasia, duodenal atresia, malrotation, and anorectal malformation. This case report aimed to mention encephalocele as another complication, which has not been reported for the CDH.

Keywords

References

1. Baerg J, Kanthimathinathan V, Gollin G. Latepresenting congenital diaphragmatic hernia: diagnostic pitfalls and outcome. Hernia. 2012; 16(4):461-6.
2. Ali SR, Ahmed S. Right-sided congenital diaphragmatic hernia and myelomeningocele: a rare association. J Coll Physicians Surg Pak. 2016; 26(12):995-6.
 3. Dott MM, Wong LY, Rasmussen SA. Population‐ based study of congenital diaphragmatic hernia: risk factors and survival in Metropolitan Atlanta, 1968– 1999. Birth Defects Res A Clin Mol Teratol. 2003; 67(4):261-7.
 4. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ. Gene Reviews. Seattle (WA): University of Washington; 2018.
 5. Testini M, Girardi A, Isernia RM, De Palma A, Catalano G, Pezzolla A, et al. Emergency surgery due to diaphragmatic hernia: case series and review. World J Emerg Surg. 2017; 12(1):23.
6. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital diaphragmatic hernia-a review. Matern Health Neonatol Perinatol. 2017; 3(1):6.
 7. Siverino RO, Guarrera V, Attinà G, Chiaramonte R, Milone P, Chiaramonte I. Parietal atretic cephalocele: associated cerebral anomalies identified by CT and MR imaging. Neuroradiol J. 2015; 28(2):217-21.
 8. Rowland CA, Correa A, Cragan JD, Alverson CJ. Are encephaloceles neural tube defects? Pediatrics. 2006; 118(3):916-23.
9. Skari H, Bjornland K, Haugen G, Egeland T, Emblem R. Congenital diaphragmatic hernia: a meta-analysis of mortality factors. J Pediatr Surg. 2000; 35(8): 1187-97.
10. Harrison MR, Adzick NS, Estes JM, Howell LJ. A prospective study of the outcome for fetuses with diaphragmatic hernia. JAMA. 1994; 271(5):382-4.
 11. Jaffray B, MacKinlay GA. Real and apparent mortality from congenital diaphragmatic hernia. Br J Surg. 1996; 83(1):79-82.
 12. Tovar JA. Congenital diaphragmatic hernia. Orphanet J Rare Dis. 2012; 7(1):1.
13. Mah VK, Chiu P, Kim PC. Are we making a real difference? Update on ‘hidden mortality’ in the management of congenital diaphragmatic hernia. Fetal Diagn Ther. 2011; 29(1):40-5.
14. Bollmann R, Kalache K, Mau H, Chaoui R, Tennstedt C. Associated malformations and chromosomal defects in congenital diaphragmatic hernia. Fetal Diagn Ther. 1995; 10(1):52-9.
 15. Herghelegiu D, Ionescu CA, Pacu I, Bohiltea R, Herghelegiu C, Vladareanu S. Antenatal diagnosis and prognostic factors of aneurysmal malformation of the vein of Galen: a case report and literature review. Medicine. 2017; 96(30):e7483.
 16. Azarow K, Messineo A, Pearl R, Filler R, Barker G, Bohn D. Congenital diaphragmatic hernia--a tale of two cities: the Toronto experience. J Pediatr Surg. 1997; 32(3):395-400.
17. Gibson C, Fonkalsrud EW. Iatrogenic pneumothorax and mortality in congenital diaphragmatic hernia. J Pediatr Surg. 1983; 18(5):555-9.
 18. Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. 1997; 32(3):401-5.
 19. Macken MB, Thompson DL. Antenatal diagnosis of congenital diaphragmatic hernia. Can Assoc Radiol J. 1993; 44(6):439-42.
20. Akinkuotu AC, Cruz SM, Cass DL, Cassady CI, Mehollin-Ray AR, Williams JL, et al. Revisiting outcomes of right congenital diaphragmatic hernia. J Surg Res. 2015; 198(2):413-7.
 21. Okoye BO, Losty PD, Fisher MJ, Wilmott I, Lloyd DA. Effect of dexamethasone on endothelial nitric oxide synthase in experimental congenital diaphragmatic hernia. Arch Dis Child Fetal Neonatal Ed. 1998; 78(3):F204-8.
 22. Noble BR, Babiuk RP, Clugston RD, Underhill TM, Sun H, Kawaguchi R, et al. Mechanisms of action of the congenital diaphragmatic hernia-inducing teratogen nitrofen. Am J Physiol Lung Cell Mol Physiol. 2007; 293(4):L1079-87.
 23. Barseghyan K, Jackson HA, Miller DA. Prenatal diagnosis of intraventricular hemorrhage in a fetus with congenital diaphragmatic hernia using magnetic resonance imaging. Minerva Ginecol. 2015; 67(4):383-4.
24. Benachi A, Cordier AG, Cannie M, Jani J. Advances in prenatal diagnosis of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014; 19(6):331-7.
 25. Morikawa N, Kuroda T, Honna T, Kitano Y, Tanaka H, Takayasu H, et al. A novel association of duodenal atresia, malrotation, segmental dilatation of the colon, and anorectal malformation. Pediatr Surg Int. 2009; 25(11):1003-5.
 26. Raut A, Jadhav S, Vora R, Mandke J, Sarode V, Kittur D. Right congenital diaphragmatic hernia associated with anorectal malformation. J Pediatr Surg. 2010; 45(1):E25-7.
27. Coughlin JP, Rector FE, Klein MD. Agenesis of the gallbladder in duodenal atresia: two case reports. J Pediatr Surg. 1992; 27(10):1304.
28. Chen RH, Hung HY, Wang NL, Shih SL, Hwang HK, Chang TY, et al. VACTERL association complicated with right-sided congenital diaphragmatic hernia. Pediatr Neonatol. 2016; 57(4):347-50. 29. Olenik D, Codrich D, Gobbo F, Travan L, Zennaro F, Dell’Oste C, et al. Hepatopulmonary fusion in a newborn. An uncommon intraoperatory finding during right congenital diaphragmatic hernia surgery: case description and review of literature. Hernia. 2014; 18(3):417-21.
 30. Sathanandam S, Kumar TS, Feliz A, Knott-Craig CJ. Successful repair of hypoplastic left heart syndrome with intact atrial septum, congenital diaphragm hernia, and anomalous origin of coronary artery: defying the odds. Ann Thorac Surg. 2016; 102(1):55-7.
31. Sroka M, Haponiuk I, Chojnicki M, Czauderna P. Cardiovascular hybrid procedure in severe congenital diaphragmatic hernia with significant left heart hypoplasia. Eur J Cardiothorac Surg. 2012; 42(1):185-7.
Iranian Journal of Neonatology
Volume 10, Issue 2
June 2019
Pages 92-95

Files

Share

How to cite

Statistics