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Hirschsprung Disease
Thursday, 19 August 2004
Monday, 29 November 2004
Congenital Aganglionosis, Congenital Megacolon

What

Hirschsprung Disease is a rare disease of the gastrointestinal system that affects children from birth. Hirschsprung disease occurs when a group of nerve cells, named a ganglion, do not form properly in the wall of the intestine during fetal development. Ganglion cells are nerve centers that cause the intestinal muscles to move stool through the large intestine (colon). Without normally functioning ganglion cells, stool becomes trapped in the colon, filling the colon and causing it to expand to larger than normal.

Who

Hirschsprung disease usually affects children in their first year of life. Currently, approximately 90% of patients with Hirschsprung disease are diagnosed in the newborn period. This disorder occurs in approximately 1 out of every 5400-7200 newborns in the United States. Hirschsprung disease equally affects children from all ethnic backgrounds. The disease occurs more often in males than females, with a male-to-female ratio of approximately 4:1 and the reason for this is not known.

Signs and Symptoms

Most children with Hirschsprung Disease show symptoms in the first few weeks of life. However, in children who only have a short piece of intestine that lacks normal ganglion cells, symptoms may not appear for several months or even years. The following are the most common symptoms usually appearing during the first year of life:

  • Not having a bowel movement in the first 48 hours of life
  • Constipation
  • Gradual swelling of the abdomen
  • Gradual onset of vomiting
  • Fever
  • Poor feeding
  • Poor weight gain Children who do not have these early symptoms may present with the following signs:
  • Sepsis (overwhelming infection)
  • Constipation that worsens over time
  • Small, watery stool
  • Loss of appetite
  • Delayed growth

Possible Causes

During digestion, intestinal muscles move food through the intestines in a movement called peristalsis. In order for this movement to occur, special nerve centers called ganglion cells are required. In children with Hirschsprung Disease, a portion of their bowel is missing ganglion cells, therefore normal peristalsis cannot occur. Consequently, stools cannot pass and bowel contents build up. This build up of stool causes an obstruction and the obstruction leads to the symptoms of this disorder. The exact mechanism underlying the development of Hirschsprung Disease is unknown. Some cases of Hirschsprung disease may be attributed to a genetic (inherited) cause.

Diagnosis

The diagnosis of Hirschsprung Disease is first suspected when newborn fails to have a bowel movement within 24-48 hours after birth. The following tests can confirm the diagnosis: • Abdominal X-ray with contrast - This is a procedure performed to examine the large intestine (colon) for abnormalities. A contrast agent such as barium (a chalky liquid) is placed into the rectum so the intestine will show up on an X-ray. This X-ray could show a narrowed colon, obstruction or enlarged intestine above the obstruction. • Rectal biopsy - This procedure is usually most important to establish the diagnosis of Hirschsprung disease. A sample of the cells in the rectum (the end of the digestive tract) is taken, and nerve cells are then looked for under a microscope. • Anorectal manometry - This determines whether normal reflexes involving the rectum and the anus are present. This test is only used in older children.

Treatment

Children with Hirschsprung disease usually require surgical treatment. Colostomy is the most effective treatment for Hirschsprung disease. In a colostomy, the surgeon removes the affected part of the colon. The top half of the remaining colon is then connected to a surgically created hole, called a stoma, on the abdomen. Stool can leave the body through this hole where it is collected in a bag while the lower part of the colon heals. Later, the surgeon will reconnect the colon inside the body and close the stoma. In some patients a, “pull-through surgery” is performed where the affected area of the colon is removed and the part above the removed colon is “pulled through” and reconnected to the lower part of the remaining colon.

Prognosis

Most children who receive surgical treatment for Hirschsprung Disease will eventually achieve normal bowel function. While some may experience occasional constipation, soiling or incontinence, this is rarely a long-term issue.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Hirschsprung and Motility Disorders Support Network
Great website for parents with general information, support group membership information, and several other links.

The Pull-Through Network
This is a support network for parents whose children have had surgery for Hirschsprung Disease and other gastrointestinal problems.

The Family Village
This website has several links to information on Hirschsprung Disease, support groups, and chat rooms.

Google Search for Hirschsprung Disease

References and Sources

1. Lee, S. (2003) Hirschsprung Disease www.emedicine.com/med/topic1016.htm 2. Neville, H (2003) Hirschsprung Disease www.emedicine.com/ped/topic1010.htm