Hirschsprung’s Disease: Clinical Features

  • P. Puri
  • S. Montedonico


Hirschsprung’s disease (HD) is a relatively common cause of intestinal obstruction in the newborn [1]. It is characterized by absence of ganglion cells in the distal bowel beginning at the internal sphincter and extending proximally for varying distances. In the human fetus, neural crest-derived neuroblasts first appear in the developing esophagus at 5 weeks of gestation, and then migrate down to the anal canal in a craniocaudal direction during the 5th to the 12th week of gestation. The absence of ganglion cells in HD has been attributed to a failure of migration of neural crest cells [2, 3]. The earlier the arrest of migration the longer the aganglionic segment is. The absence of ganglion cells results in absent peristalsis in the affected bowel and the development of functional intestinal obstruction.


Total Colonic Aganglionosis Aganglionic Segment Functional Intestinal Obstruction Total Intestinal Aganglionosis Australian Paediatric Surveillance Unit 
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  1. 1.
    Dasgupta R, Langer JC (2004) Hirschsprung disease. Curr Probl Surg 41:942–988PubMedCrossRefGoogle Scholar
  2. 2.
    Newgreen D, Young HM (2002) Enteric nervous system: development and developmental disturbances – part 2. Pediatr Dev Pathol 5:329–349PubMedCrossRefGoogle Scholar
  3. 3.
    Newgreen D, Young HM (2002) Enteric nervous system: development and developmental disturbances – part 1. Pediatr Dev Pathol 5:224–247PubMedGoogle Scholar
  4. 4.
    Hirschsprung H (1888) Stuhltragheit neugeborener infolge von dilatation und hypertrophic des colons. Jb Kinderheilkd 27:1Google Scholar
  5. 5.
    Whitehouse F, Kernohan J (1948) Myenteric plexuses in congenital megacolon; study of 11 cases. Arch Intern Med 82:75Google Scholar
  6. 6.
    Swenson O, Bill A (1948) Resection of the rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon. Surgery 24:212–220PubMedGoogle Scholar
  7. 7.
    Puri P (2003) Hirschsprung’s disease. In: Puri P (ed) Newborn surgery. Arnold, London, pp 513–534Google Scholar
  8. 8.
    Bodian M, Carter C (1963) A family study of Hirschsprung’s disease. Ann Hum Genet 26:261–277CrossRefGoogle Scholar
  9. 9.
    Passarge E (1967) The genetics of Hirschsprung’s disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med 276:138–143PubMedCrossRefGoogle Scholar
  10. 10.
    Orr JD, Scobie WG (1983) Presentation and incidence of Hirschsprung’s disease. Br Med J (Clin Res Ed) 287:1671CrossRefGoogle Scholar
  11. 11.
    Ikeda K, Goto S (1984) Diagnosis and treatment of Hirschsprung’s disease in Japan. An analysis of 1628 patients. Ann Surg 199:400–405PubMedCrossRefGoogle Scholar
  12. 12.
    Spouge D, Baird PA (1985) Hirschsprung disease in a large birth cohort. Teratology 32:171–177PubMedCrossRefGoogle Scholar
  13. 13.
    Russell MB, Russell CA, Niebuhr E (1994) An epidemiological study of Hirschsprung’s disease and additional anomalies. Acta Paediatr 83:68–71PubMedCrossRefGoogle Scholar
  14. 14.
    Rajab A, Freeman NV, Patton MA (1997) Hirschsprung’s disease in Oman. J Pediatr Surg 32:724–727PubMedCrossRefGoogle Scholar
  15. 15.
    Madsen C (1964) Hirschsprung’s disease. Munksgaard, CopenhagenGoogle Scholar
  16. 16.
    Althoff W (1962) On the genetics of Hirschsprung’s disease (in German). Z Mensch Vererb Konstitutionsl 36:314–340PubMedGoogle Scholar
  17. 17.
    Goldberg EL (1984) An epidemiological study of Hirschsprung’s disease. Int J Epidemiol 13:479–485PubMedCrossRefGoogle Scholar
  18. 18.
    Torfs C (1998) An epidemiological study of Hirschsprung’s disease in a multiracial California population. Proceedings of the Third International Meeting: Hirschsprung’s Disease and Related Neurocristopathies, Evian, FranceGoogle Scholar
  19. 19.
    Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005) Hirschsprung’s disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg 40:197–201; discussion 201–202PubMedCrossRefGoogle Scholar
  20. 20.
    Puri P (2000) Hirschsprung’s disease: clinical generalities. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease and allied disorders. Harwood, Amsterdam, pp 129–135Google Scholar
  21. 21.
    Swenson O, Sherman JO, Fisher JH (1973) Diagnosis of congenital megacolon: an analysis of 501 patients. J Pediatr Surg 8:587–594PubMedCrossRefGoogle Scholar
  22. 22.
    Kleinhaus S, Boley SJ, Sheran M, Sieber WK (1979) Hirschsprung’s disease – a survey of the members of the Surgical Section of the American Academy of Pediatrics. J Pediatr Surg 14:588–597PubMedCrossRefGoogle Scholar
  23. 23.
    Sherman JO, Snyder ME, Weitzman JJ, Jona JZ, Gillis DA, O’Donnell B, Carcassonne M, Swenson O (1989) A 40-year multinational retrospective study of 880 Swenson procedures. J Pediatr Surg 24:833–838PubMedCrossRefGoogle Scholar
  24. 24.
    Ryan ET, Ecker JL, Christakis NA, Folkman J (1992) Hirschsprung’s disease: associated abnormalities and demography. J Pediatr Surg 27:76–81PubMedCrossRefGoogle Scholar
  25. 25.
    Singh SJ, Croaker GD, Manglick P, Wong CL, Athanasakos H, Elliott E, Cass D (2003) Hirschsprung’s disease: the Australian Paediatric Surveillance Unit’s experience. Pediatr Surg Int 19:247–250PubMedCrossRefGoogle Scholar
  26. 26.
    Senyuz OF, Buyukunal C, Danismend N, Erdogan E, Ozbay G, Soylet Y (1989) Extensive intestinal aganglionosis. J Pediatr Surg 24:453–456PubMedCrossRefGoogle Scholar
  27. 27.
    Sharif K, Beath SV, Kelly DA, McKiernan P, van Mourik I, Mirza D, Mayer AD, Buckels JA, de Ville de Goyet J (2003) New perspective for the management of near-total or total intestinal aganglionosis in infants. J Pediatr Surg 38:25–28; discussion 25–28PubMedCrossRefGoogle Scholar
  28. 28.
    Badner JA, Sieber WK, Garver KL, Chakravarti A (1990) A genetic study of Hirschsprung disease. Am J Hum Genet 46:568–580PubMedGoogle Scholar
  29. 29.
    Chakravarti A, Lyonnet S (2001) Hirschsprung disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw Hill, New York, pp 6231–6255Google Scholar
  30. 30.
    Schiller M, Levy P, Shawa RA, Abu-Dalu K, Gorenstein A, Katz S (1990) Familial Hirschsprung’s disease – a report of 22 affected siblings in four families. J Pediatr Surg 25:322–325PubMedCrossRefGoogle Scholar
  31. 31.
    Engum SA, Petrites M, Rescorla FJ, Grosfeld JL, Morrison AM, Engles D (1993) Familial Hirschsprung’s disease: 20 cases in 12 kindreds. J Pediatr Surg 28:1286–1290PubMedCrossRefGoogle Scholar
  32. 32.
    Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729–739PubMedCrossRefGoogle Scholar
  33. 33.
    Menezes M, Puri P (2005) Long-term clinical outcome in patients with Hirschsprung’s disease and associated Down’s syndrome. J Pediatr Surg 40:810–812PubMedCrossRefGoogle Scholar
  34. 34.
    Brown R, Cywes S (2000) Disorders and congenital malformations associated with Hirschsprung’s disease. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease and allied disorders. Harwood, Amsterdam, pp 137–145Google Scholar
  35. 35.
    Gariepy CE (2003) Genetic basis of Hirschsprung dis­ease: implications in clinical practice. Mol Genet Metab 80:66–73PubMedCrossRefGoogle Scholar
  36. 36.
    Puri P, Shinkai T (2004) Pathogenesis of Hirschsprung’s dis­ease and its variants: recent progress. Semin Pediatr Surg 13:18–24PubMedCrossRefGoogle Scholar
  37. 37.
    Stewart DR, von Allmen D (2003) The genetics of Hirschsprung disease. Gastroenterol Clin North Am 32:819–837, viPubMedCrossRefGoogle Scholar
  38. 38.
    Polley T, Coran AG (1986) Hirschsprung’s disease in the newborn. An 11-year experience. Pediatr Surg Int 1:80–83CrossRefGoogle Scholar
  39. 39.
    Klein MD, Coran AG, Wesley JR, Drongowski RA (1984) Hirschsprung’s disease in the newborn. J Pediatr Surg 19:370–374PubMedCrossRefGoogle Scholar
  40. 40.
    Clark DA (1977) Times of first void and first stool in 500 newborns. Pediatrics 60:457–459PubMedGoogle Scholar
  41. 41.
    Bill A, Chapman N (1962) The enterocolitis of Hirschsprung’s disease: its natural history and treatment. Am J Surg 103:70–74CrossRefGoogle Scholar
  42. 42.
    Elhalaby EA, Coran AG, Blane CE, Hirschl RB, Teitelbaum DH (1995) Enterocolitis associated with Hirschsprung’s disease: a clinical-radiological characterization based on 168 patients. J Pediatr Surg 30:76–83PubMedCrossRefGoogle Scholar
  43. 43.
    Fujimoto T, Puri P (1988) Persistence of enterocolitis following diversion of fecal stream in Hirschsprung’s disease. A study of mucosal defence mechanisms. Pediatr Surg Int 3:141–146CrossRefGoogle Scholar
  44. 44.
    Belin B, Corteville J, Langer J (1995) How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung’s disease? Pediatr Surg Int 10:30–32CrossRefGoogle Scholar
  45. 45.
    Soper RT, Opitz JM (1962) Neonatal pneumoperitoneum and Hirschsprung’s disease. Surgery 51:527–533PubMedGoogle Scholar
  46. 46.
    Teitelbaum DH, Coran AG, Weitzman JJ, Ziegler MM, Kane T (1998) Hirschsprung’s disease and related neuromuscular disorders of the intestine. In: O’Neill JA, Rowe MI, Grosfeld JL, Fonkalsrud EW, Coran AG (eds) Pediatric surgery, 5th edn. Mosby, St Louis, pp 1381–1424Google Scholar
  47. 47.
    Felman AH, Talbert JL (1971) Failure to thrive. How about Hirschsprung’s disease? Clin Pediatr (Phila) 10:125–126CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • P. Puri
    • 1
  • S. Montedonico
    • 1
  1. 1.Children’s Research Centre, Our Lady’s Children’s HospitalUniversity College of DublinCrumlinIreland

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