Anorectal Malformations Associated with Esophageal Atresia in Neonates

Overview

Journal Pediatr Gastroenterol Hepatol Nutr

Date 2013 Sep 7

PMID 24010103

Citations 2

Authors

Shin Yun Byun

Ryoung Kyoung Lim

Kyung Hee Park

Yong Hoon Cho

Hae Young Kim

Affiliations

Soon will be listed here.

Abstract

Purpose: Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia.

Methods: Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted.

Results: The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems.

Conclusion: This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality.

Citing Articles

Simultaneous Single-staged Repair of Anorectal Malformation with Tracheoesophageal Fistula: Lessons Learned.

Gangopadhyay A, Pandey V J Indian Assoc Pediatr Surg. 2017; 22(2):96-100.

PMID: 28413304 PMC: 5379881. DOI: 10.4103/0971-9261.202682.

Esophageal atresia in patients with anorectal malformations.

Fernandez E, Bischoff A, Dickie B, Frischer J, Hall J, Pena A Pediatr Surg Int. 2014; 30(8):767-71.

PMID: 24993283 DOI: 10.1007/s00383-014-3531-9.

References

Agochukwu N, Pineda-Alvarez D, Keaton A, Warren-Mora N, Raam M, Kamat A . Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. Eur J Med Genet. 2011; 54(3):323-8. PMC: 3086932. DOI: 10.1016/j.ejmg.2011.01.007. View

Martinez-Frias M, Frias J . VACTERL as primary, polytopic developmental field defects. Am J Med Genet. 1999; 83(1):13-6. DOI: 10.1002/(sici)1096-8628(19990305)83:1<13::aid-ajmg4>3.3.co;2-o. View

Casaccia G, Catalano O, Bagolan P . Congenital gastrointestinal anomalies in anorectal malformations: what relationship and management?. Congenit Anom (Kyoto). 2009; 49(2):93-6. DOI: 10.1111/j.1741-4520.2009.00230.x. View

Ornoy A, Rand S, Bischitz N . Hyperglycemia and hypoxia are interrelated in their teratogenic mechanism: studies on cultured rat embryos. Birth Defects Res B Dev Reprod Toxicol. 2010; 89(2):106-15. DOI: 10.1002/bdrb.20230. View

Martinez-Frias M, Frias J, Opitz J . Errors of morphogenesis and developmental field theory. Am J Med Genet. 1998; 76(4):291-6. View

Garcia-Barcelo M, Wong K, Lui V, Yuan Z, So M, Ngan E . Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A. 2008; 146A(24):3181-5. DOI: 10.1002/ajmg.a.32426. View

Spouge D, Baird P . Imperforate anus in 700,000 consecutive liveborn infants. Am J Med Genet Suppl. 1986; 2:151-61. DOI: 10.1002/ajmg.1320250619. View

Edison R, Muenke M . Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A. 2004; 131(3):287-98. DOI: 10.1002/ajmg.a.30386. View

Cuschieri A . Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet. 2001; 103(3):207-15. DOI: 10.1002/ajmg.1532.abs. View

10.

Russell L, Weaver D, Bull M . The axial mesodermal dysplasia spectrum. Pediatrics. 1981; 67(2):176-82. View

11.

Cho S, MOORE S, Fangman T . One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001; 155(5):587-91. DOI: 10.1001/archpedi.155.5.587. View

12.

Kumar A, Agarwala S, Srinivas M, Bajpai M, Bhatnagar V, Gupta D . Anorectal malformations and their impact on survival. Indian J Pediatr. 2006; 72(12):1039-42. DOI: 10.1007/BF02724407. View

13.

Levine F, Muenke M . VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics. 1991; 87(3):390-2. View

14.

Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T . Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies. J Pediatr Surg. 1999; 34(3):435-41. DOI: 10.1016/s0022-3468(99)90494-3. View

15.

Hassink E, Rieu P, Hamel B, Severijnen R, vd Staak F, Festen C . Additional congenital defects in anorectal malformations. Eur J Pediatr. 1996; 155(6):477-82. DOI: 10.1007/BF01955185. View

16.

Ratan S, Rattan K, Pandey R, Mittal A, Magu S, Sodhi P . Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach. J Pediatr Surg. 2004; 39(11):1706-11. DOI: 10.1016/j.jpedsurg.2004.07.019. View

17.

Chan B, Koide T, Leung M, Copp A, Loeken M, Shiroishi T . Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes. 2002; 51(9):2811-6. DOI: 10.2337/diabetes.51.9.2811. View

18.

Opitz J . Blastogenesis and the "primary field" in human development. Birth Defects Orig Artic Ser. 1993; 29(1):3-37. View

19.

Aguinaga M, Zenteno J, Perez-Cano H, Moran V . Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 2010; 152A(3):781-3. DOI: 10.1002/ajmg.a.33293. View

20.

Botto L, Khoury M, Mastroiacovo P, Castilla E, Moore C, Skjaerven R . The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997; 71(1):8-15. DOI: 10.1002/(sici)1096-8628(19970711)71:1<8::aid-ajmg2>3.0.co;2-v. View