Hirschsprung’s Disease

(Congenital Megacolon; Colonic Aganglionosis)

Definition

Hirschsprung's disease is a rare disorder of the colon. It is present at birth. This disease causes problems with the movement within the colon. It usually affects the last 1-2 feet of the colon. Hirschsprung's can make it difficult to have effective bowel movements.

Causes

The colon is a muscular tube. It pushes waste to the rectum by squeezing then relaxing. Nerves tell the colon when to squeeze and when to relax.In Hirschsprung's disease, the nerve cells that tell parts of the colon to relax are missing. This means that parts of the colon never relax and fully open. This can make it difficult for the waste to move through the affected area.
Hirschsprung's Disease
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The missing nerve cells are due to a genetic defect.In some cases, Hirschsprung is hereditary. This means parents could pass it to their children. Genes from the parents can be passed even if the parents do not have the disease.

Risk Factors

Factors that may increase your child's chance of Hirschsprung's include:
  • Family members with the disease
  • Sex: male
  • Presence of Down Syndrome
  • Presence of other congenital defects

Symptoms

Symptoms can differ by age.Symptoms found in newborns include:
  • Failure to have a bowel movement within the first 48 hours of life
  • Vomiting after eating
  • Swelling of abdomen
Symptoms found in young children include:Symptoms found in teenagers include:
  • Severe constipation for most of their lives
  • Anemia

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