Hirschsprung disease is a rare birth defect. It affects the nerve cells in the large intestine. These nerve cells control the muscles that move food and waste, or stool, through the large intestine. The large intestine is the last part of the digestive tract.
Babies with Hirschsprung disease are missing nerve cells in all or part of the large intestine. In most cases, only the end parts of the colon are affected. Without these nerve cells, the muscles can’t move food and waste through that part of the large intestine. Stool can’t move forward. It stays in the large intestine.
The intestine can become partly or fully blocked. It begins to grow larger than normal. This can cause constipation, swelling, pain, and infection.
During pregnancy, a baby’s nerve cells form along the intestines. They begin in the mouth and end in the anus. In babies with Hirschsprung disease, the nerve cells don’t grow past a certain part of the large intestine. Experts don’t know why this happens.
A child is more at risk for Hirschsprung disease if there is a family history of the disorder. Some genetic syndromes, such as Down syndrome, are also linked with the disorder.
Boys are more likely to have Hirschsprung disease than girls.
Most babies with Hirschsprung disease have symptoms in the first few weeks of life. In some cases only a short part of the intestine may be affected. Then symptoms may not be seen for a few months or years.
Each child’s symptoms may vary. Symptoms in newborns may include:
Children who don’t show early symptoms may also have:
Symptoms of Hirschsprung disease may seem like other health problems. See your child's healthcare provider for a diagnosis.
Your child’s healthcare provider will do an exam and take a health history. The provider will ask questions about constipation and bowel movements. Other tests may be done to find out if your child has Hirschsprung disease. These tests may include:
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
Hirschsprung disease is treated with surgery called a pull-through procedure. A surgeon removes the part of the large intestine that lacks nerve cells. When possible, the healthy part that is left is connected to the anal opening.
In some cases surgery may be done in 2 stages. A child who is very sick from Hirschsprung disease may first need ostomy surgery. This can help the child heal before the pull-through surgery. With ostomy surgery, the diseased part of the large intestine is removed. The end of the healthy intestine is moved to an opening made in the belly. This opening is called a stoma. Stool passes through the stoma and into a bag worn outside the body. The bag must be emptied several times a day.
An ostomy may be short-term, or temporary. Or it may be permanent. It depends on how much of the intestine must be removed. If it is short-term, the surgeon will connect the healed intestine to the anus and sew the stoma closed.
In Hirschsprung disease a part of the large intestine lacks normal nerve cells. This means that digested food and stool can’t move forward through that part of the digestive tract. The large intestine becomes blocked with stool. Your baby will be constipated, or unable to have normal bowel movements.
The blockage creates pressure on the inside of the intestine. This causes part of the intestinal wall to wear thin. Over time, a bacterial infection called enterocolitis can develop in the digestive tract. This is very serious. Symptoms of enterocolitis include:
Call your child’s healthcare provider right away if your child has any signs of enterocolitis.
Your child’s bowel function may be affected after surgery. The most common long-term problems include bowel control and leaking stool, constipation, and infections.
Problems that may occur after surgery depend on the amount of intestine that lacked nerve cells, and how much intestine was removed.
Children who are able to have their ostomy closed may have short-term problems, including:
Children who had a large section of intestine removed may have long-term problems. The digestive process can be affected. Nutrients and fluids are absorbed from food in the small intestine. Removing a large segment of the intestine can prevent a child from getting enough nutrients and fluids. Children can have problems with poor digestion, slow growth, and infection. Your child may need to eat and drink more in order to get enough nutrients and fluid.
Talk with your child’s healthcare provider about your child’s specific situation.
Call your child's healthcare provider if your newborn doesn’t have a bowel movement in the first 48 hours of life.
Call the provider if your infant or child has any of these symptoms:
If your child has had surgery for Hirschsprung disease, call the provider if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider: