Definition
Hirschsprung's disease is a rare disorder of the colon. It is present at birth. This disease causes problems with the movement in the colon. It usually affects the last 1-2 feet of the colon. Hirschsprung's can make it difficult to have effective bowel movements. It occurs most often by itself but can also be part of a syndrome.
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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.
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 newborn include:
- Failure to pass meconium within the first 48 hours of life (Meconium is the first bowel movement.)
- Vomiting after eating
- Swelling of abdomen
Symptoms found in young children include:
- Severe constipation
- Diarrhea
- Anemia—blood disorder
- Growth delay
Symptoms found in teenagers include:
- Severe constipation for most of their lives
- Anemia—blood disorder
Diagnosis
Hirschsprung's disease is often diagnosed in infancy. Some may not be diagnosed until adolescence or early adulthood.
Your doctor will ask about your child's symptoms and medical history. A physical exam will be don