Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
권호 표지
DOI QR코드

DOI QR Code

Anorectal Malformations Associated with Esophageal Atresia in Neonates

  • Byun, Shin Yun (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Lim, Ryoung Kyoung (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Park, Kyung Hee (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Cho, Yong Hoon (Department of Surgery, Pusan National University School of Medicine) ;
  • Kim, Hae Young (Department of Surgery, Pusan National University School of Medicine)
  • Received : 2013.01.02
  • Accepted : 2013.01.30
  • Published : 2013.03.30
Download PDF
⟨ Previous Next ⟩

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.

Keywords

References

  1. Cuschieri A; EUROCAT Working Group. Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet 2001;103:207-15. https://doi.org/10.1002/ajmg.1532
  2. Spouge D, Baird PA. Imperforate anus in 700,000 consecutive liveborn infants. Am J Med Genet Suppl 1986;2:151-61.
  3. Hassink EA, Rieu PN, Hamel BC, Severijnen RS, vd Staak FH, Festen C. Additional congenital defects in anorectal malformations. Eur J Pediatr 1996;155:477-82. https://doi.org/10.1007/BF01955185
  4. Lerone M, Bolino A, Martucciello G. The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg 1997;6:170-9.
  5. Casaccia G, Catalano OA, Bagolan P. Congenital gastrointestinal anomalies in anorectal malformations: what relationship and management? Congenit Anom (Kyoto) 2009;49:93-6. https://doi.org/10.1111/j.1741-4520.2009.00230.x
  6. Ratan SK, Rattan KN, Pandey RM, Mittal A, Magu S, Sodhi PK. Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach. J Pediatr Surg 2004;39:1706-11. https://doi.org/10.1016/j.jpedsurg.2004.07.019
  7. Russell LJ, Weaver DD, Bull MJ. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67:176-82.
  8. Opitz JM. Blastogenesis and the "primary field" in human development. Birth Defects Orig Artic Ser 1993;29:3-37.
  9. Aguinaga M, Zenteno JC, Perez-Cano H, Moran V. Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A 2010;152A:781-3. https://doi.org/10.1002/ajmg.a.33293
  10. Garcia-Barcelo MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, et al. Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A 2008;146A:3181-5. https://doi.org/10.1002/ajmg.a.32426
  11. Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, et al. Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. Eur J Med Genet 2011;54:323-8. https://doi.org/10.1016/j.ejmg.2011.01.007
  12. Ornoy A, Rand SB, Bischitz N. Hyperglycemia and hypoxia are interrelated in their teratogenic mechanism: studies on cultured rat embryos. Birth Defects Res B Dev Reprod Toxicol 2010;89:106-15.
  13. Chan BW, Chan KS, Koide T, Yeung SM, Leung MB, Copp AJ, et al. Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes 2002;51:2811-6. https://doi.org/10.2337/diabetes.51.9.2811
  14. Edison RJ, Muenke M. Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A 2004;131:287-98.
  15. Levine F, Muenke M. VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics 1991;87:390-2.
  16. Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, et al. 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;34:435-41. https://doi.org/10.1016/S0022-3468(99)90494-3
  17. Cho S, Moore SP, Fangman T. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med 2001;155:587-91. https://doi.org/10.1001/archpedi.155.5.587
  18. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 1997;71:8-15. https://doi.org/10.1002/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V
  19. Martinez-Frias ML, Frias JL. VACTERL as primary, polytopic developmental field defects. Am J Med Genet 1999;83:13-6. https://doi.org/10.1002/(SICI)1096-8628(19990305)83:1<13::AID-AJMG4>3.0.CO;2-X
  20. Martinez-Frias ML, Frias JL, Opitz JM. Errors of morphogenesis and developmental field theory. Am J Med Genet 1998;76:291-6. https://doi.org/10.1002/(SICI)1096-8628(19980401)76:4<291::AID-AJMG3>3.0.CO;2-T
  21. Kumar A, Agarwala S, Srinivas M, Bajpai M, Bhatnagar V, Gupta DK, et al. Anorectal malformations and their impact on survival. Indian J Pediatr 2005;72:1039-42. https://doi.org/10.1007/BF02724407
  22. Rintala R, Lindahl H, Louhimo I. Anoretal malformations - results of treatment and lon-term follow-up in 208 patients. Pediatr Surg Int 1991;6:36-41.
  23. Son SK, Park JH, Choi BH, Choi KH, Lee KH. A clinical analysis of neonatal surgical gastrointestinal disease in Daegu.Busan area. Korean J Pediatr Gastroenterol Nutr 2004;7:179-85.

Cited by

  1. Esophageal atresia in patients with anorectal malformations vol.30, pp.8, 2013, https://doi.org/10.1007/s00383-014-3531-9
  2. Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study vol.103, pp.None, 2013, https://doi.org/10.1016/j.earlhumdev.2016.07.005
  3. High-Resolution Esophageal Manometry in Teenagers with Esophageal Atresia vol.10, pp.1, 2020, https://doi.org/10.4236/ojepi.2020.101007