Abstract
Anorectal malformations (ARMs) encompass all hind gut tract defects and are a broad spectrum of malformations with heterogeneous functional prognosis, associated with 60% of cases with other malformations. Their prevalence is approximately 1/3000. Nearly, 30% of cases are well-identified syndromes. It is thus important that newborns suspected of ARM are referred to an expert center. Although the surgical treatments for ARM have been well-codified for many years, aiming to reproduce normal anatomy, mechanical defecation abnormalities remain a significant challenge. Postoperative multidisciplinary management and follow-up have an important place to keep these patients, if not fully continent, at least with socially acceptable levels of cleanliness. The place of supportive care is also fundamental. Accepting limitations in support and management, the development of therapeutic education programs can be of great value to help patients achieve independence. Even if disability generated by these defects is not visible, the impact on everyday life can be considerable. The lack of ARM adult specialists and patient isolation remain significant and require close collaboration between pediatric and adult teams to build programs of transition to adulthood and to better identify late sequelae.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
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.
Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in patients with anorectal anomalies. Eur J Med Genet. 2007;50:281–90.
Zwink N, Jenetzky E, Brenner H. Parental risk factors and anorectal malformations: systematic review and meta-analysis. Orphanet J Rare Dis. 2011;17:6–25.
Levi AC, Borghi F, Garavoglia M. Development of the anal canal muscles. Dis Colon Rectum. 1991;34(3):262–6.
Bourdelat D, Barbet JP. Morphological differentiation of the anorectal sphincter in the human embryo and fetus. Chir Pediatr. 1990;31(1):12–7.
Kluth D, Lambrecht W. Current concepts in the embryology of anorectal malformations. Semin Pediatr Surg. 1997;6:180–6.
Holschneider A, Hutson J, Peña A, Beket E, Chatterjee S, Coran A, Davies M, Georgeson K, Grosfeld K, Gupta D, Iwai N, Kluth D, Martucciello G, Moore S, Rintala R, Smith ED, Sripathi DV, Stephens DV, Sen S, Ure B, Grasshoff S, Boemers T, Murphy F, Söylet Y, Dübbers M, Kunst M. Preliminary report on the international conference for the development of standards for the treatment of anorectal malformations. J Pediatr Surg. 2005;40:1521–6.
Smith ED, Stephens FD. High, intermediate, and low anomalies in the male. Birth Defects Orig Artic Ser. 1988;24:17–72.
Aubry MC. Imagerie prénatale. In: Cretolle C, Revillon Y, Sarnacki S, editors. Les malformations anorectales. Montpellier: Sauramps Medical; 2008. p. 101–10.
Levitt AP. Pediatric surgery. In: Coran A, editor. Pediatric surgery, vol. 2. 7th ed. Philadelphia: Elsevier Saunders; 2012. p. 1289–131.
Kim IO, Han TI, Kim WS, Yeon KM. Transperineal ultrasonography in imperforate anus: identification of the internal fistula. J Ultrasound Med. 2000;19:211–6.
McHugh K. The role of radiology in children with anorectal anomalies; with particular emphasis on MRI. Eur J Radiol. 1998;26:194–9.
Haber HP, Seitz G, Warmann SW, Fuchs J. Transperineal sonography for determination of the type of imperforate anus. AJR Am J Roentgenol. 2007;189(6):1525–9.
Kluth D. Embryology of anorectal malformations. Semin Pediatr Surg. 2010;19(3):201–8.
Mundt E, Bates MD. Genetics of Hirschsprung disease and anorectal malformations. Semin Pediatr Surg. 2010;19(2):107–17.
Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O’Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H. Trends in congenital anomalies in Europe from 1980 to 2012. PLoS One. 2018;13(4):e0194986.
Nah SA, Ong CC, Lakshmi NK, Yap TL, Jacobsen AS, Low Y. Anomalies associated with anorectal malformations according to the Krickenbeck anatomic classification. J Pediatr Surg. 2012;47:2273–8.
Kim SM, Chang HK, Lee MJ, Shim KW, Oh JT, Kim DS, Kim MJ, Han SJ. Spinal dysraphism with anorectal malformation: lumbosacral magnetic resonance imaging evaluation of 120 patients. J Pediatr Surg. 2010;45:769–76.
Pena A. Anorectal malformations. Semin Pediatr Surg. 1995;4(1):35–47.
Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981;137:395–8.
Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Spectrum of HLXB9 gene mutations in currarino syndrome and genotype-phenotype correlation. Hum Mutat. 2008;29:903–10.
Pakarinen MP, Rintala RJ. Management and outcome of low anorectal malformations. Pediatr Surg Int. 2010;26:1057–63.
de Vries PA, Peña A. Posterior sagittal anorectoplasty. J Pediatr Surg. 1982;17:638–43.
Pena A, Devries PA. Posterior sagittal anorectoplasty: important technical considerations and new applications. J Pediatr Surg. 1982;17(6):796–811.
Bischoff A, Pena A, Levitt MA. Laparoscopic-assisted PSARP—the advantages of combining both techniques for the treatment of anorectal malformations with recto-bladderneck or high prostatic fistulas. J Pediatr Surg. 2013;48(2):367–71.
Georgeson KE, Inge TH, Albanese CT. Laparoscopically assisted anorectal pull-through for high imperforate anus-a new technique. J Pediatr Surg. 2000;35:927–30.
Pena A, Grasshoff S, Levitt M. Reoperations in anorectal malformations. J Pediatr Surg. 2007;42(2):318–25.
Misra D, Chana J, Drake DP, Kiely EM, Spitz L. Operative trauma to the genitourinary tract in the treatment of anorectal malformations: 15 years’ experience. Urology. 1996;47(4):559–62.
Hong AR, Acua MF, Pea A, Chaves L, Rodriguez G. Urologic injuries associated with repair of anorectal malformations in male patients. J Pediatr Surg. 2002;37(3):339–44.
Shawyer AC, Livingston MH, Cook DJ, Braga LH. Laparoscopic versus open repair of recto-bladderneck and recto-prostatic anorectal malformations: a systematic review and meta-analysis. Pediatr Surg Int. 2015;31(1):17–30.
Bischoff A, Levitt MA, Bauer C, Jackson L, Holder M, Peña A. Treatment of fecal incontinence with a comprehensive bowel management program. J Pediatr Surg. 2009;44:1278–83.
Peña A, el Behery M. Megasigmoid: a source of pseudoincontinence in children with repaired anorectal malformations. J Pediatr Surg. 1993;28:199–203.
Peña A, Hong A. Advances in the management of anorectal malformations. Am J Surg. 2000;180:370–6.
Rintala RJ, Lindahl HG, Rasanen M. Do children with repaired low anorectal malformations have normal bowel function? J Pediatr Surg. 1997;32:823–6.
Tuuha SE, Aziz D, Drake J, Wales P, Kim PCW. Is surgery necessary for asymptomatic tethered cord in anorectal malformation patients? J Pediatr Surg. 2004;39(5):773–7.
Levitt MA, Patel M, Rodriguez G, Gaylin DS, Pena A. The tethered spinal cord in patients with anorectal malformations. J Pediatr Surg. 1997;32(3):462–8.
Rivosecchi M, Lucchetti MC, Zaccara A, De Gennaro M, Fariello G. Spinal dysraphism detected by magnetic resonance imaging in patients with anorectal anomalies: incidence and clinical significance. J Pediatr Surg. 1995;30(3):488–90.
Hoekstra WJ, Scholtmeijer RJ, Molenaar JC, Schreeve RH, Schroeder FH. Urogenital tract abnormalities associated with congenital anorectal anomalies. J Urol. 1983;130(5):962–3.
Boemers TM, de Jong TP, van Gool JD, Bax KM. Urologic problems in anorectal malformations. Part 2: functional urologic sequelae. J Pediatr Surg. 1996;31(5):634–7.
Cortes D, Thorup JM, Nielsen OH, Beck BL. Cryptorchidism in boys with imperforate anus. J Pediatr Surg. 1995;30(4):631–5.
Boemers TM, Beek FJ, van Gool JD, de Jong TP, Bax KM. Urologic problems in anorectal malformations. Part 1: urodynamic findings and significance of sacral anomalies. J Pediatr Surg. 1996;31(3):407–10.
Levitt MA, Peña A. Imperforate anus and cloacal malformations. In: Ashcraft KW, editor. Pediatric surgery. 5th ed. Philadelphia: Elsevier Saunders; 2010. p. 468–90.
Hassett S, Snell S, Hughes-Thomas A, Holmes K. 10-year outcome of children born with anorectal malformation, treated by posterior sagittal anorectoplasty, assessed according to the Krickenbeck classification. J Pediatr Surg. 2009;44:399–403.
Schmidt D, Jenetzky E, Zwink N, Schmiedeke E, Maerzheuser S. Postoperative complications in adults with anorectal malformation: a need for transition. German network for congenital Uro-REctal malformations (CURE-net). Pediatr Surg Int. 2012;28:793–5.
Mantoo S, Meurette G, Wyart V, Hardouin J, Crétolle C, Capito C, Sarnacki S, Podevin G, Lehur PA. Impact of anorectal malformation sequelae on social integration in adulthood: report from a national registry (MAREP). Color Dis. 2013;15:e330–5.
Hartman EE, Oort FJ, Aronson DC, Sprangers MA. Quality of life and disease-specific functioning of patients with anorectal malformations or Hirschsprung’s disease: a review. Arch Dis Child. 2011;96:398–406.
Breech L. Gynecologic concerns in patients with anorectal malformations. Semin Pediatr Surg. 2010;19(2):139–45.
Levitt MA, Bischoff A, Breech L, Pena A. Rectovestibular fistula—rarely recognized associated gynecologic anomalies. J Pediatr Surg. 2009;44(6):1261–7. Discussion 7.
Fanjul M, Lancharro A, Molina E, Cerda J. Gynecological anomalies in patients with anorectal malformations. Pediatr Surg Int. 2019;35(9):967–70.
Stenstrom P, Kockum CC, Emblem R, Arnbjornsson E, Bjornland K. Bowel symptoms in children with anorectal malformation—a follow-up with a gender and age perspective. J Pediatr Surg. 2014;49(7):1122–30.
Ichijo C, Kaneyama K, Hayashi Y, Koga H, Okazaki T, Lane GJ, et al. Midterm postoperative clinicoradiologic analysis of surgery for high/intermediate-type imperforate anus: prospective comparative study between laparoscopy-assisted and posterior sagittal anorectoplasty. J Pediatr Surg. 2008;43(1):158–62; discussion 62–3.
Yang J, Zhang W, Feng J, Guo X, Wang G, Weng Y, et al. Comparison of clinical outcomes and anorectal manometry in patients with congenital anorectal malformations treated with posterior sagittal anorectoplasty and laparoscopically assisted anorectal pull through. J Pediatr Surg. 2009;44(12):2380–3.
Levitt MA, Pena A. Cloacal malformations: lessons learned from 490 cases. Semin Pediatr Surg. 2010;19(2):128–38.
Warne SA, Wilcox DT, Ledermann SE, et al. Renal outcome in patients with cloaca. J Urol. 2002;167:2548–51.
Rintala R, Mildh L, Lindahl H. Fecal continence and quality of life in adult patients with an operated low anorectal malformation. J Pediatr Surg. 1992;27(7):902–5.
Rintala R, Mildh L, Lindahl H. Fecal continence and quality of life for adult patients with an operated high or intermediate anorectal malformation. J Pediatr Surg. 1994;29(6):777–80.
Maerzheuser S, Schmidt D, Mau H, Winter S. Prospective evaluation of comorbidity and psychosocial need in children and adolescents with anorectal malformation. Part one: paediatric surgical evaluation and treatment of defecating disorder. Pediatr Surg Int. 2009;25(10):889–93.
Mosiello G, Marshall D, Rolle U, Cretolle C, Santacruz BG, Frischer J, Benninga MA. Consensus review of best practice of transanal irrigation in children. Pediatr Gastroenterol Nutr. 2017;64(3):343–52.
Mattix KD, Novotny NM, Shelley AA, Rescorla FJ. Malone antegrade continence enema (MACE) for fecal incontinence in imperforate anus improves quality of life. Pediatr Surg Int. 2007;23(12):1175–7.
Pena A, el Behery M. Megasigmoid: a source of pseudoincontinence in children with repaired anorectal malformations. J Pediatr Surg. 1993;28(2):199–203.
Borg H, Bachelard M, Sillen U. Megarectosigmoid in children with anorectal malformations: long term outcome after surgical or conservative treatment. J Pediatr Surg. 2014;49(4):564–9.
Pena A. Posterior sagittal anorectoplasty as a secondary operation for the treatment of fecal incontinence. J Pediatr Surg. 1983;18(6):762–73.
Brain AJ, Kiely EM. Posterior sagittal anorectoplasty for reoperation in children with anorectal malformations. Br J Surg. 1989;76(1):57–9.
Rintala RJ, Pakarinen MP. Imperforate anus: long- and short-term outcome. Semin Pediatr Surg. 2008;17(2):79–89.
Haddad M, Besson R, Aubert D, Ravasse P, Lemelle J, El Ghoneimi A, et al. Sacral neuromodulation in children with urinary and fecal incontinence: a multicenter, open label, randomized, crossover study. J Urol. 2010;184(2):696–701.
Sulkowski JP, Nacion KM, Deans KJ, Minneci PC, Levitt MA, Mousa HM, et al. Sacral nerve stimulation: a promising therapy for fecal and urinary incontinence and constipation in children. J Pediatr Surg. 2015;50(10):1644–7.
Caruso AM, Catalano P, Li Voti G, Salerno S, Casuccio A, Di Pace MR, et al. Prognostic evaluation of biofeedback response in patients treated for anorectal malformation. J Pediatr Surg. 2015;50(10):1648–52.
van Kuyk EM, Wissink-Essink M, Brugman-Boezeman AT, Oerlemans HM, Nijhuis-van der Sanden MW, Severijnen RS, et al. Multidisciplinary behavioral treatment of defecation problems: a controlled study in children with anorectal malformations. J Pediatr Surg. 2001;36(9):1350–6.
Schmiedeke E, Busch M, Stamatopoulos E, Lorenz C. Multidisciplinary behavioral treatment of fecal incontinence and constipation after correction of anorectal malformation. World J Pediatr. 2008;4(3):206–10.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
Crétolle, C. (2022). Anorectal Malformations. In: Faure, C., Thapar, N., Di Lorenzo, C. (eds) Pediatric Neurogastroenterology. Springer, Cham. https://doi.org/10.1007/978-3-031-15229-0_30
Download citation
DOI: https://doi.org/10.1007/978-3-031-15229-0_30
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-031-15228-3
Online ISBN: 978-3-031-15229-0
eBook Packages: MedicineMedicine (R0)