Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

Hirschsprung’s Disease

  • Erdener ÖzerEmail author
Reference work entry


Aganglionic megacolon; Congenital megacolon


Hirschsprung’s disease is a common cause of neonatal intestinal obstruction due to improper muscle movement in the bowel. Patients are unable to defecate because of the lack of ganglion cells. It is a congenital condition; therefore, it is present from birth. Newborns will often have abdominal distension, while older children may suffer from chronic constipation. Hirschsprung’s disease results from the absence of ganglion cells within the myenteric and submucosal plexus of the rectum and/or colon. Colonic ganglion cells are derived from the neural crest and migrate caudally with the vagal nerve fibers along the intestine. These ganglion cells arrive in the proximal colon by 8 weeks of gestation and in the rectum by 12 weeks of gestation. The arrest in ganglionic migration leads to an aganglionic segment. This results in clinical Hirschsprung’s disease.

Clinical Features

  • Incidence

    Its incidence is estimated to be 1 in 5,000...

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References and Further Reading

  1. Gershon, M. D., & Ratcliffe, E. M. (2004). Developmental biology of the enteric nervous system: Pathogenesis of Hirschsprung’s disease and other congenital dysmotilities. Seminars in Pediatric Surgery, 13, 224–235.CrossRefGoogle Scholar
  2. Kapur, R. P. (2009). Practical pathology and genetics of Hirschsprung’s disease. Seminars in Pediatric Surgery, 18, 212–223.CrossRefGoogle Scholar
  3. Kenny, S. E., Tam, P. K., & Garcia-Barcelo, M. (2010). Hirschsprung’s disease. Seminars in Pediatric Surgery, 19, 194–200.CrossRefGoogle Scholar
  4. Moore, S. W., & Johnson, G. (2005). Acetylcholinesterase in Hirschsprung’s disease. Pediatric Surgery International, 21, 255–263.CrossRefGoogle Scholar
  5. Swenson, O. (2002). Hirschsprung’s disease: A review. Pediatrics, 109, 914–918.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of PathologyDokuz Eylül University School of MedicineIzmirTurkey