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Hirschsprung Disease

What is Hirschsprung disease?

Healthy intestines squeeze with a wave-like motion to move food and stool (feces) along the digestive tract. This motion is called peristalsis (pair-ih-STALL-sis). In children with Hirschsprung disease, nerve cells are missing usually from part of the large intestine (colon) or the rectum (where waste collects before passing out through the anus). These nerve cells are called ganglion cells. Ganglion cells allow the bowel to relax and to squeeze. If the ganglion cells are missing, the bowel squeezes shut and stays that way. So there is no peristalsis. Instead the bowel acts like it is blocked.

The ganglion cells can be missing from a short segment, a long segment or the whole colon and rectum. In most children, the nerve cells are missing from the end of the colon or the rectum. In very rare cases, the cells are missing from part of the small intestine. Because there's no squeezing motion in this part of the bowel, stool stops moving forward. The intestine or rectum can get blocked completely (obstructed) or your child can have ongoing constipation. Constipation means that bowel movements are difficult.

Hirschsprung disease increases your child's risk for having an infection in the colon called enterocolitis. While enterocolitis is treatable, it can also threaten the child's life if not treated appropriately.

Who gets Hirschsprung disease?

Hirschsprung disease is present at birth (congenital). Certain forms of the disease can be passed from parent to child in the genes. But it's not common for more than one family member to have it.

The condition affects about 1 in 5,000 children. In about half of these children, doctors diagnose the condition soon after birth. Most of the rest are diagnosed by the age of 2.

What are the symptoms?

Your child may have one or more of these symptoms just after birth:

  • No stool passed within the first day or two after birth
  • Swollen belly (abdomen) from gas
  • Vomiting, which may be yellow or greenish

Older infants and children may have problems with constipation that are difficult to make better using routine treatments. Infants with enterocolitis may be very ill and have fevers, a swollen abdomen, and watery or bloody diarrhea. They may become very sleepy and less active. Any of these symptoms in a child who has a diagnosis of Hirschsprung disease means the child needs immediate medical attention.

How do you diagnose Hirschsprung disease?

If your baby has the symptoms mentioned, the doctor will want to take X-rays to get an idea of what the intestine looks like. Your baby may need a regular X-ray or a series of X-rays called a lower GI (PDF 44KB) (short for gastrointestinal) series or contrast enema. This study uses a dye that is placed into the baby's anus through a small tube. The dye allows the doctor to see the intestine better on an X-ray and to diagnose Hirschsprung disease.

To tell for sure whether your child has Hirschsprung disease, doctors need to take a small sample of tissue from the rectum to check it for nerve cells. This is called a suction rectal biopsy. Sometimes in older children doctors also test pressure changes and muscle movements in the rectum, but this is not likely to be needed. To do this, they insert a small balloon that senses these changes. This test is called rectal manometry.

What is your experience with Hirschsprung disease at Children's?

We have treated well over 100 children with Hirschsprung disease at Children's in the past decade. Our surgeons are experienced at performing the surgery needed to repair a child's intestine so stool can pass. We generally see 10 to 15 children each year with this disease.

When you come to Children's, you have a team of people to care for your child before, during and after surgery. Along with your child's surgeon, you are connected with doctors trained to care for new babies with complex problems (neonatologists), nurses, dietitians, child life specialists, social workers and others. We work together to meet all of your child's health needs and help your family through this experience.

Since 1907, Children's has been treating children only. Our team members are trained in their fields and also in meeting the unique needs of children. For example, the doctors who give your child anesthesia are board certified in pediatric anesthesiology. This means they have extra years of training in how to take care of kids. Our child life specialists know how to help children understand their illnesses and treatments in ways that make sense for their age. Our expertise in pediatrics truly makes a difference for our patients and families.

How do you treat Hirschsprung disease?

Children with Hirschsprung disease need surgery to remove the segment of their intestine that isn't working and to attach the healthy, upper intestine to their anus.

At the time of surgery, your child will have general anesthesia. This means we will give your child medicine to make them sleep without pain during the surgery. The surgeon will remove the segment of intestine that does not have ganglion cells. This always includes the rectum. It also includes part of the large intestine, depending on where your child is affected. Normal intestine that has ganglion cells is then sewn to the anus.

Surgery options

There are several options for doing this surgery. The primary operations are called the Swenson, Suave or Duhamal operations. Each of these operations has several variations. Many of the methods are equivalent. The choice of one over the other may depend on the condition of your child and the preference of your surgeon.

  • Minimally invasive surgery: Sometimes surgeons make a few small cuts, or incisions, in the abdomen and insert a thin, lighted tube with a camera and their surgical tools. This is called laparoscopic or minimally invasive surgery.
  • Open surgery: Sometimes surgeons use a single incision to get the intestine that needs to be removed.
  • Transanal pull-through: Sometimes surgeons can reach the intestines through your baby's anus, remove the unhealthy section and pull the remaining intestine down.
  • Combination: In some cases, surgeons use laparoscopic or open techniques along with a transanal operation.

All of these options are available at Children's. Your child's surgery team will discuss which option they suggest for your child.

Many babies have this surgery soon after birth. But some babies need another step first to give their intestine a chance to heal if enterocolitis is suspected or if the intestine is very stretched out from being blocked. These babies may start by having a surgery called an ostomy.

Ostomy

In an ostomy, the surgeon creates an opening, or stoma, in the abdomen. Then the surgeon cuts through the intestine and attaches the end to the stoma. This allows waste to pass to a pouch attached on the outside of your child's body. It also gives doctors a chance to wash out the intestine to help it heal. The ostomy is temporary. After the intestine recovers (in a few months to a year), the surgeon will operate again to do one of the operations mentioned above and connect the intestine to the anus.

If your child needs an ostomy, you will get step-by-step details about how to care for the stoma and change the pouch.

After repair

After surgery, we will give your child pain medicine to make them comfortable. They will have an IV (short for intravenous) line that goes into a vein to provide fluids. Your child may also have a tube that passes through the nose into the stomach (called a nasogastric tube, or NG tube). This keeps their stomach empty until gas and stool can pass through the intestines.

You can expect your child to be in the hospital for three to five days after surgery — until they can eat well, can pass waste and have no fever or other signs of problems. Some children need to stay longer depending on their health and the extent of their surgery. The surgery team can give you an idea of the time frame for your child.

After your child goes home, you'll need to keep any incisions clean and dry until they heal. The surgery team will teach you how to care for the incision and how to feed your child and will tell you if you need to limit your child's activity for a while.

Special care is needed for the skin around your child's anus after surgery. At first, your child will pass stool often. This is the first time their skin has come into contact with waste, so the skin tends to get irritated. Your child's health-care team will teach you how to keep skin irritation down.

Follow-up care

About two to three weeks after surgery, your child will need to see the surgeon for a follow-up visit. The surgeon will make sure the incision is healing and your child is recovering. Besides this visit, your child may need regular follow-up visits for many years so the surgeon can check that everything is working well.

Most children with Hirschsprung disease develop good control of their bowels over time. Some have challenges with "accidents" (incontinence) or difficult bowel movements (constipation). If your child has a problem like this, talk with their health-care team. There are many treatments that can help. One option is called a bowel management plan. This means using stool softeners, eating high-fiber foods or taking other steps to keep the intestines working well.

ong-term follow-up is very important for these children. Many children will do very well after their initial surgery. But some will have problems with continued or intermittent constipation and may need further surgery. Careful discussion of your child's bowel habits with the surgery team will help give your child the best outcome possible.

Resources

Read more about what to expect when your child visits a clinic at Children's, has surgery here or needs to stay in the hospital. You can get practical details about topics like what to do and bring the day of surgery and who will be on your child's care team. You can also take a virtual tour of our surgery rooms and other parts of the hospital.

To learn more about this condition, you may want to visit our resource list.