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Hirschsprung disease

Synonym: congenital aganglionic megacolon
named after the danish pediatrician Harald Hirschsprung (1830-1916)

1 Definition

Hirschsprung disease is a birth defect, affecting one in 5000 newborns, in which the innervation of the intestinal wall (both the Meissner submucosal plexus and the Auerbach myenteric plexus) is missing in a distal segment of the large intestine.

As the innervation is absent, there are no coordinated peristaltic contractions and functional obstruction is present. This leads to a dilation of the other parts of the large intestine, proximal to the affected segment, hence the name megacolon.

2 Pathogenesis

The aganglionosis results from an impaired migration of neural crest cells from the first part of the large intestine, the caecum, to the last part, the rectum. The neural crest cells are responsible for the formation of the enteric neuronal plexus.

The etiology is multifactorial, most commonly reported is a heterozygous loss-of-function mutation in the gene encoding for the receptor tyrosine kinase RET. The disease is more common in males, but more severe in females.

Enzyme histochemistry of an affected colon segment in a patient with Hirschsprung disease.

3 Clinical features

Neonates are unable to pass their first stool, the meconium, and therefore present with constipation. Other signs are abdominal distention and vomiting of a green fluid containing bile.

Affected individuals are at risk for fluid- and electrolyte imbalances, enterocolitis, and intestinal perforation.

4 Types

  • Short-segment disease, in which only a distal segment of the colon misses innervation.
  • Long-segment disease, occurs in 20 percent of cases. Almost the whole large intestine is aganglionic.

5 Treatment

Treatment occurs by surgical resection, for example through an ileoanal pull-through anastomosis.

6 Sources

  • Robbins, S., Kumar, V. and Cotran, R.: Robbins And Cotran Pathologic Basis Of Disease, Ninth edition. Elsevier, 2009.
  • Jennifer Kessmann, M.D.: Hirschsprung’s Disease: Diagnosis and Management. American Family Physician, October 2006.

This page was last edited on 9 August 2020, at 23:17.

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