Hirschsprung's disease

Hirschsprung (HIRSH-sproong) disease is a condition in which nerve cells are missing in a baby's large intestine, resulting in bowel blockage. These nerve cells help move contents through the colon. Without them, the contents can back up and cause problems with passing stool. Hirschsprung disease is present at birth.

A newborn who has Hirschsprung disease usually can't have a bowel movement in the days after birth. In mild cases, there might not be symptoms until later in childhood. Rarely, Hirschsprung disease is first diagnosed in adults.

The treatment is surgery to bypass or remove the affected part of the colon.

Symptoms of Hirschsprung disease depend on how bad the condition is. Usually symptoms start shortly after birth, but sometimes don't show up until later in life.

Typically, the most obvious symptom is a newborn's failure to have a bowel movement within 48 hours after birth.

Other symptoms in newborns may include:

• Constipation or gas, which might make a newborn fussy.
• Diarrhea.
• Failure to thrive.
• Stomach pain.
• Swollen belly.
• Vomiting, including a green or brown substance.

In older children, symptoms can include:

• Long-lasting constipation.
• Gas.
• Failure to gain weight.
• Fatigue.
• Stomach pain.
• Swollen belly.

The cause of Hirschsprung disease is unclear. It sometimes runs in families. In some cases, it might be associated with an altered gene.

Hirschsprung disease occurs when nerve cells in the colon don't develop all the way. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

Factors that may increase the risk of Hirschsprung disease include:

• Having a sibling who has Hirschsprung disease. Hirschsprung disease can be inherited, meaning it's passed down through families. If you have one child who has the condition, future children could be at risk.
• Being male. Hirschsprung disease is more common in males.
• Having other inherited conditions. Hirschsprung disease can be related to certain inherited conditions, such as Down syndrome. It also can be related to irregularities present at birth, such as congenital heart disease.

Children who have Hirschsprung disease could develop enterocolitis, a serious intestinal infection. Enterocolitis can be life-threatening and should be treated right away.

To diagnose Hirschsprung disease, a healthcare professional will do an exam and ask questions about the child's bowel movements. One or more of the following tests may be recommended to diagnose or rule out Hirschsprung disease:

• Removing a sample of colon tissue for testing. Called a biopsy, this is the best way to identify Hirschsprung disease. A biopsy sample can be collected using a suction device. The sample will then be looked at under a microscope to see if nerve cells are missing.

• Stomach X-ray using a contrast dye. A dye is placed into the bowel through a special tube placed in the rectum. The dye fills and coats the lining of the bowel, showing a clear outline of the colon and rectum.

  The X-ray will often show the difference between the part of bowel without nerves and the often-swollen section of bowel behind it.

• Measuring control of the muscles around the rectum. Called an anal manometry, this test is typically done on older children and adults. During this test, a balloon is inflated inside the rectum. The surrounding muscle should relax as a result. If it doesn't, Hirschsprung disease could be the cause.

Hirschsprung disease is typically treated with surgery to bypass or remove the part of the colon that's missing nerve cells. There are two ways this can be done: a pull-through surgery or an ostomy surgery.

Pull-through surgery

In this procedure, the lining of the diseased part of the colon is stripped away. Then, the healthy section is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive methods, operating through the anus.

Ostomy surgery

In children who are very ill, surgery might be done in two steps.

First, the diseased part of the colon is removed. The healthy part of the colon is then connected to an opening created in the child's belly, called a stoma. Stool leaves the body through the opening into a bag. The bag attaches to the end of the intestine that comes through the stoma. This allows time for the lower part of the colon to heal.

Once the colon has had time to heal, a second procedure is done to close the stoma and connect the healthy part of the intestine to the rectum or anus.

Results of surgery

After surgery, most children can pass stool through the anus.

Possible complications that may improve with time include:

• Constipation.
• Delays in toilet training.
• Diarrhea.
• Leaking stool.

Children also continue to be at risk of developing enterocolitis after surgery, especially in the first year. Call a healthcare professional right away if any of the symptoms of enterocolitis occur, such as:

• Bleeding from the rectum.
• Diarrhea.
• Fever.
• Swollen abdomen.
• Vomiting.

If your child has constipation after surgery for Hirschsprung disease, talk with a healthcare professional about whether you should:

• Serve high-fiber foods. If your child eats solid foods, include high-fiber foods. Offer whole grains, fruits and vegetables and limit white bread and other low-fiber foods. A sudden increase in high-fiber foods can worsen constipation at first, so add high-fiber foods to your child's diet slowly.

  If your child isn't eating solid foods yet, ask the health professional about formulas that might help relieve constipation. Some infants might need a feeding tube for a while.

• Increase fluids. Have your child drink more water. If part or all of your child's colon was removed, your child may not absorb enough water. Drinking more water can help your child stay hydrated, which may help ease constipation.
• Encourage physical activity. Daily physical activity helps with regular bowel movements.
• Try laxatives, as directed by your child's health professional. Your child may not respond to or won't tolerate increased fiber, water or physical activity. Certain laxatives — medicines to help with bowel movements — might help relieve constipation. Ask your health professional whether you should give your child laxatives, how often you should do so, and about the risks and benefits.

Hirschsprung disease is often diagnosed in the hospital shortly after birth, or symptoms of the condition show up later. If your child has symptoms that worry you, especially constipation and a swollen abdomen, talk to a healthcare professional.

You might be referred to a digestive disorders specialist, called a gastroenterologist, or to the emergency department if your child's symptoms are severe.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything your child needs to do in advance, such as fasting for a specific test. Make a list of:

• Your child's signs or symptoms, including details about bowel movements — frequency, consistency, color and associated pain.
• Your child's key medical information, including other conditions your child has and family medical history.
• All medicines, vitamins or supplements your child is taking and how much water your child drinks in a typical day.
• Questions to ask your child's healthcare professional.

Take a family member or friend along, if possible, to help you remember the information you're given.

For Hirschsprung disease, basic questions to ask include:

• What is likely causing my child's symptoms?
• What are other possible causes?
• What tests does my child need?
• What's the best course of action for relieving symptoms?
• If you recommend surgery, what should I expect from my child's recovery?
• What are the risks of surgery?
• What's my child's long-term prognosis after surgery?
• Will my child need to follow a special diet?
• Are there any brochures or other printed materials I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from the doctor

You're likely to be asked a few questions, including:

• When did your child's symptoms begin?
• Have the symptoms worsened?
• How often does your child have a bowel movement?
• Are your child's bowel movements painful?
• Are your child's stools loose? Do they contain blood?
• Has your child been vomiting?
• Does your child tire easily?
• What, if anything, seems to improve your child's symptoms?
• What, if anything, appears to worsen your child's symptoms?
• Is there a family history of similar intestinal problems?