Skip to main content
SpringerLink
Log in

Hirschsprung’s Disease

  • Chapter
  • First Online:
Neonatal Surgery

  • 1294 Accesses

Abstract

Hirschsprung’s disease (HSCR) is a congenital rare condition characterized by the absence of ganglion cells in the distal bowel, resulting in chronic functional obstruction. In most cases the aganglionosis involves the rectum or rectosigmoid, but it can extend for varying lengths. The incidence of Hirschsprung disease is approximately 1 in 5000 live births with male preponderance. The usual presentation of neonate affected by HSCR is intestinal obstruction during the first few days of life. A common severe complication presenting in many patients is enterocolitis. The gold standard for the diagnosis of HSCR is rectal suction biopsy.

The main goal in the treatment of patients with Hirschsprung’s disease is to resect the aganglionic segment and pull down the normoganglionic bowel.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Leenders E, Sieber W. Congenital megacolon observation by Frederick Ruysch--1691. J Pediatr Surg. 1970;5:1–3.

    Article  CAS  Google Scholar 

  2. Fiori M. Domenico Battini and his description of congenital megacolon: a detailed case report one century before Hirschsprung. J Peripher Nerv Syst. 1998;3:197–206.

    CAS  PubMed  Google Scholar 

  3. Hirschsprung H. Constipation of newborns as a result of dilatation and hypertrophy of the colon. Jhrb f Kinderh. 1888;27:1–7.

    Google Scholar 

  4. Ehreinpreis T. Megacolon in the newborn. A Clinical and Röntgenological Study with special regard to the pathogenesis. Acta Chir Scand. 1946;94:112.

    Google Scholar 

  5. Swenson O. Hirschsprung’s disease—a complicated therapeutic problem: some thoughts and solutions based on data and personal experience over 56 years. J Pediatr Surg. 2004;10:1449–53.

    Article  Google Scholar 

  6. Rehbein F. Operative therapy of Hirschsprung’s disease. Langenbecks Arch Klin Chir Ver Dtsch Z Chir. 1953;276:540–3.

    CAS  PubMed  Google Scholar 

  7. Duhamel B. A new operation for the treatment of Hirschsprung’s. Arch Dis Child. 1960;35:38–9.

    Article  CAS  Google Scholar 

  8. Boley S. A new operative approach to total aganglionosis. Surg Gynecol Obstet. 1984;159:481.

    CAS  PubMed  Google Scholar 

  9. Soave F. Hirschsprung’s disease: a new surgical technique. Arch Dis Child. 1964;39:116–24.

    Article  CAS  Google Scholar 

  10. Georgeson K, Fuenfer M, Hardin W. Primary laparoscopic-assisted endorectal colon pull-through for Hirschsprung’s disease. J Pediatr Surg. 1999;5:678.

    Google Scholar 

  11. De la Torre-Mondragón L, Ortega-Salgado J. Transanal endorectal pull-through for Hirschsprung’s disease. J Pediatr Surg. 1998;33:1283–6.

    Article  Google Scholar 

  12. Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung’s disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg. 2005;40:197–201.

    Article  Google Scholar 

  13. Tomuschat P, Puri P. RET gene is a major risk factor for Hirschsprung’s disease: a meta-analysis. Pediatr Surg Int. 2015;31:701–10.

    Article  CAS  Google Scholar 

  14. Montedonico S, Puri P. Hirschsprung’s disease: clinical features. In: Holschneider AM, Puri P, editors. Hirschsprung’s disease and allied disorders. 3rd ed. Berlin, Heidelberg: Springer-Verlag; 2008. p. 107–10.

    Google Scholar 

  15. Larsson L. Hirschsprung’s disease--immunohistochemical findings. Histol Histopathol. 1994;3:615–29.

    Google Scholar 

  16. Qualman S, Murray R. Aganglionosis and related disorders. Hum Pathol. 1994;25:1141–9.

    Article  CAS  Google Scholar 

  17. O’Donnell A, Coyle D, Puri P. Deficiency of platelet-derived growth factor receptor-a-positive cells in Hirschsprung’s disease colon. World J Gastroenterol. 2016;22:3335–40.

    Article  Google Scholar 

  18. Tomuschat C, O’Donnell A, Coyle D, Dreher N, Kelly D, Puri P. Altered expression of ATP-sensitive K(+) channels in Hirschsprung’s disease. J Pediatr Surg. 2016;6:948–52.

    Article  Google Scholar 

  19. Bettolli M, De Carli C, Jolin-Dahel K, Rubin S. Colonic dysmotility in postsurgical patients with Hirschsprung’s disease. Potential significance of abnormalities in the interstitial cells of Cajal and the enteric nervous system. J Pediatr Surg. 2008;43:1433–8.

    Article  Google Scholar 

  20. Coyle D, O’Donnell A, Gillick J, Puri P. Altered neurotransmitter expression profile in the ganglionic bowel in Hirschsprung’s disease. J Pediatr Surg. 2016;51:762–9.

    Article  Google Scholar 

  21. Rolle U, Piotrowska A, Nemeth L, Puri P. Altered distribution of interstitial cells of Cajal in Hirschsprung disease. Arch Pathol Lab Med. 2002;126:928–33.

    PubMed  Google Scholar 

  22. Tomuschat C, O’Donnell A, Coyle D, Puri P. Reduced expression of voltage-gated Kv11.1 (hERG) K(+) channels in aganglionic colon in Hirschsprung’s disease. Pediatr Surg Int. 2016;32:9–16.

    Article  Google Scholar 

  23. Parisi M, Kapur R. Genetics of Hirschsprung disease, vol. 12; 2000. p. 6.

    Google Scholar 

  24. Lantieri F, Griseri P, Amiel J, Martucciello G, Ceccherini I, Romeo G, et al. The molecular genetics of Hirschsprung’s disease. In: Holschneider AM, Puri P, editors. Hirschsprung’s disease and allied disorders. 3rd ed. Berlin, Heidelberg: Springer-Verlag; 2008. p. 63–78.

    Chapter  Google Scholar 

  25. Stewart D, von Allmen D. The genetics of Hirschsprung disease. Gastroenterol Clin North Am. 2003;32(3):819–37.

    Article  Google Scholar 

  26. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease. Nature. 1994;367(6461):377–8.

    Article  CAS  Google Scholar 

  27. Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung’s disease. In:Seminars in medicine of the Beth Israel Hospital, Boston, vol. 335. Boston: Massachusetts Medical Society; 1996. p. 13.

    Google Scholar 

  28. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2001;38:729–39.

    Article  CAS  Google Scholar 

  29. Pini Prato A, Gentilino V, Giunta C, Avanzini S, Parodi S, Mattioli M, et al. Hirschsprung’s disease: 13 years’ experience in 112 patients from a single institution. Pediatr Surg Int. 2008;24:175–82.

    Article  Google Scholar 

  30. Martucciello G. Hirschsprung’s disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench. Eur J Pediatr Surg. 2008;18:140–9.

    Article  CAS  Google Scholar 

  31. Martucciello G, Pini Prato A, Puri P, Holschneider A, Meier-Ruge W, Jasonni V, et al. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung’s disease and related neurocristopathies. J Pediatr Surg. 2005;40:1527–31.

    Article  Google Scholar 

  32. Pastor A, Osman F, Teitelbaum D, Caty M, Langer J. Development of a standardized definition for Hirschsprung’s-associated enterocolitis: a Delphi analysis. J Pediatr Surg. 2009;44:251–6.

    Article  Google Scholar 

  33. Elhalaby E, Coran A, Blane C, Hirschl R, Teitelbaum D. Enterocolitis associated with Hirschsprung’s disease: a clinical-radiological characterization based on 168 patients. J Pediatr Surg. 1995;30:76–83.

    Article  CAS  Google Scholar 

  34. Hackam D, Filler R, Pearl R. Enterocolitis after the surgical treatment of Hirschsprung’s disease: risk factors and financial impact. J Pediatr Surg. 1998;33:830–3.

    Article  CAS  Google Scholar 

  35. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V. Hirschsprung’s disease: what about mortality? Pediatr Surg Int. 2011;27:473–8.

    Article  Google Scholar 

  36. Thomas D, Fernie D, Malone M, Bayston R, Spitz L. Association between Clostridium difficile and enterocolitis in Hirschsprung’s disease. Lancet 1982. 1982;1:78–9.

    CAS  Google Scholar 

  37. Thomas D, Fernie D, Bayston R, Spitz L, Nixon H. Enterocolitis in Hirschsprung’s disease: a controlled study of the etiologic role of Clostridium difficile. J Pediatr Surg. 1986;21:22–5.

    Article  CAS  Google Scholar 

  38. Parsons S, Fenton E, Dargaville P. Clostridium difficile associated severe enterocolitis: a feature of Hirschsprung’s disease in a neonate presenting late. J Paediatr Child Health. 2005;41:689–90.

    Article  CAS  Google Scholar 

  39. Wilson-Storey D, Scobie W, McGenity K. Microbiological studies of the enterocolitis of Hirschsprung’s disease. Arch Dis Child. 1990;65:1338–9.

    Article  CAS  Google Scholar 

  40. De Filippo C, Pini-Prato A, Mattioli G, Avanzini S, Rapuzzi G, Cavalieri D, et al. Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung’s disease-associated enterocolitis: a pilot study. Pediatr Surg Int. 2010;26:465–71.

    Article  Google Scholar 

  41. Li Y, Poroyko V, Yan Z, Pan L, Feng Y, Zhao P, et al. Characterization of intestinal microbiomes of Hirschsprung’s disease patients with or without enterocolitis using illumina-MiSeq high-throughput sequencing. PLoS One. 2016;11:e0162079.

    Article  Google Scholar 

  42. Khan A, Vujanic G, Huddart S. The constipated child: how likely is Hirschsprung’s disease? Pediatr Surg Int. 2003;19:439–42.

    Article  CAS  Google Scholar 

  43. Pini Prato A, Avanzini S, Gentilino V, Martucciello G, Mattioli G, Coccia C, et al. Rectal suction biopsy in the workup of childhood chronic constipation: indications and diagnostic value. Pediatr Surg Int. 2007;23(2):117–22.

    Article  Google Scholar 

  44. Pini Prato A, Martucciello G, Jasonni V. Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 2001;36:1364–6.

    Article  CAS  Google Scholar 

  45. Pini Prato A, Martucciello G, Jasonni V. Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg. 2006;41:1043–8.

    Article  Google Scholar 

  46. Martucciello G, Favre A, Torre M, Pini Prato A, Jasonni V. A new rapid acetylcholinesterase histochemical method for the intraoperative diagnosis of Hirschsprung’s disease and intestinal neuronal dysplasia. Eur J Pediatr Surg. 2001;11:300–4.

    Article  CAS  Google Scholar 

  47. Bruder E, Meier-Ruge W. Twenty years diagnostic competence center for Hirschsprung’s disease in Basel. Chirurg. 2010;81:572–6.

    Article  CAS  Google Scholar 

  48. Pini Prato A, Musso M, Ceccherini I, Mattioli G, Giunta C, Ghiggeri G, et al. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine (Baltimore). 2009;88:83–90.

    Article  Google Scholar 

  49. Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, et al. A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet J Rare Dis. 2013;23:184.

    Article  Google Scholar 

  50. Lamontagne F, Labbé A, Haeck O, Lesur O, Lalancette M, Patino C, et al. Impact of emergency colectomy on survival of patients with fulminant Clostridium difficile colitis during an epidemic caused by a hypervirulent strain. Ann Surg. 2007;245:267–72.

    Article  Google Scholar 

  51. So H, Schwartz D, Becker J, Daum F, Schneider K. Endorectal “pull-through” without preliminary colostomy in neonates with Hirschsprung’s disease. J Pediatr Surg. 1980;15:470–1.

    Article  CAS  Google Scholar 

  52. Cilley R, Statter M, Hirschl R, Coran A. Definitive treatment of Hirschsprung’s disease in the newborn with a one-stage procedure. Surgery. 1994;115:551–6.

    CAS  PubMed  Google Scholar 

  53. Wilcox D, Bruce J, Bowen J, Bianchi A. One-stage neonatal pull-through to treat Hirschsprung’s disease. J Pediatr Surg. 1997;32:243–5.

    Article  CAS  Google Scholar 

  54. Coran A, Teitelbaum D. Recent advances in the management of Hirschsprung’s disease. Am J Surg. 2000;180:382–7.

    Article  CAS  Google Scholar 

  55. Scholfield D, Ram A. Laparoscopic duhamel procedure for Hirschsprung’s disease: systematic review and meta-analysis. J Laparoendosc Adv Surg Tech A. 2016;26:53–61.

    Article  Google Scholar 

  56. Fuchs O, Booss D. Rehbein’s procedure for Hirschsprung’s disease. An appraisal of 45 years. Eur J Pediatr Surg. 1999;9:389–91.

    Article  CAS  Google Scholar 

  57. Boley S. New modification of the surgical treatment of Hirschsprung’s. Surgery. 1964;56:1015–7.

    CAS  PubMed  Google Scholar 

  58. Swenson O, Bill AJ. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon; an experimental study. Surgery. 1948;24:212–20.

    CAS  PubMed  Google Scholar 

  59. Mattioli G, Pini Prato A, Giunta C, Avanzini S, Della Rocca M, Montobbio G, et al. Outcome of primary endorectal pull-through for the treatment of classic Hirschsprung disease. J Laparoendosc Adv Surg Tech A. 2008;18:869–74.

    Article  Google Scholar 

  60. Langer J, Durrant A, de la Torre L, Teitelbaum D, Minkes R, Caty M, et al. One-stage transanal Soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children. Ann Surg. 2003;238:569–83.

    PubMed  PubMed Central  Google Scholar 

  61. Ekema G, Falchetti D, Torri F, Merulla V, Manciana A, Caccia G. Further evidence on totally transanal one-stage pull-through procedure for Hirschsprung’s disease. J Pediatr Surg. 2003;38:1434–9.

    Article  Google Scholar 

  62. Georgeson K, Cohen R, Hebra A, Jona J, Powell D, Rothenberg S, et al. Primary laparoscopic-assisted endorectal colon pull-through for Hirschsprung’s disease: a new gold standard. Ann Surg. 1999;229:678–82.

    Article  CAS  Google Scholar 

  63. Mattioli G, Pio L, Leonelli L, Razore B, Disma N, Montobbio G, et al. A provisional experience with robot-assisted soave procedure for older children with Hirschsprung disease:back to the future? J Laparoendosc Adv Surg Tech A. 2017;27:546–9.

    Article  Google Scholar 

  64. Wildhaber B, Teitelbaum D, Coran A. Total colonic Hirschsprung’s disease: a 28-year experience. J Pediatr Surg. 2005;40:203–6.

    Article  Google Scholar 

  65. Zhang S, Bai Y, Wang W, Wang W. Clinical outcome in children after transanal 1-stage endorectal pull-through operation for Hirschsprung disease. J Pediatr Surg. 2005;40:1307–11.

    Article  Google Scholar 

  66. Pini Prato A, Gentilino V, Giunta C, Avanzini S, Mattioli G, Parodi S, et al. Hirschsprung disease: do risk factors of poor surgical outcome exist? J Pediatr Surg. 2008;43:612–9.

    Article  Google Scholar 

  67. Neuvonen M, Kyrklund K, Rintala R, Pakarinen M. Bowel function and quality of life after transanal endorectal pull-through for Hirschsprung disease: controlled outcomes up to adulthood. Ann Surg. 2017;265:622–9.

    Article  Google Scholar 

  68. Menezes M, Pini Prato A, Jasonni V, Puri P. Long-term clinical outcome in patients with total colonic aganglionosis: a 31-year review. J Pediatr Surg. 2008;43:1696–9.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Paediatric Surgery Unit, Istituto Giannina Gaslini, DINOGMI University of Genoa, Genoa, Italy

    Maria Grazia Faticato & Girolamo Mattioli

Authors
  1. Maria Grazia Faticato
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Girolamo Mattioli
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Pediatric Surgery, S.Orsola Hospital, University of Bologna, Bologna, Italy

    Mario Lima

  2. Pediatric Surgeon FMH EBPS, Lausanne-Pully, Switzerland

    Olivier Reinberg

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Faticato, M.G., Mattioli, G. (2019). Hirschsprung’s Disease. In: Lima, M., Reinberg, O. (eds) Neonatal Surgery. Springer, Cham. https://doi.org/10.1007/978-3-319-93534-8_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-93534-8_23

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-93532-4

  • Online ISBN: 978-3-319-93534-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation