What Is Hirschsprung Disease?

Hirschsprung (HERSH-sproong) disease affects the intestine of newborns, babies, and toddlers. It makes them have trouble emptying their bowels. Most of the time, the problems with pooping start at birth, although in milder cases symptoms may appear months or years later.

Treatment always requires surgery. Fortunately, most children who have surgery are able to pass bowel movements (BMs) normally.

Hirschsprung disease can cause constipation, diarrhea, and vomiting. Sometimes it leads to serious colon problems, like enterocolitis and toxic megacolon, which can be life-threatening. So it's important to diagnose and treat Hirschsprung disease as early as possible.

What Are the Signs & Symptoms of Hirschsprung Disease?

The symptoms of Hirschsprung disease can vary depending on how severe it is and how long the affected piece of intestine is. Children with severe cases usually will have symptoms within the first few days of life.

Newborns with Hirschsprung disease may:

• not be able to pass stool within the first or second day of life
• have a swollen belly, bloating, or gas
• have diarrhea
• vomit (which may look green or brown)

A newborn who can't poop within the first 48 hours of life is often how doctors find Hirschsprung disease. This red flag can be very valuable in diagnosing the condition.

Less severe cases might not be spotted until a child is a little older, or sometimes even later. Symptoms in these cases are usually milder but can be long-lasting (or chronic ). They can include:

• a swollen belly
• constipation
• trouble gaining weight
• vomiting
• gas

Older kids with Hirschsprung disease might have a growth delay because the condition can affect the body's ability to absorb nutrients.

What Causes Hirschsprung Disease?

Hirschsprung disease prevents bowel movements (stool) from passing through the intestines due to missing nerve cells in the intestine. Most commonly, it involves the part of the colon close to the anus (where poop leaves the body). But it can involve the entire intestine. It's caused by a birth defect.

Normally, the intestine moves digested material through the gut by a series of contractions called peristalsis. This is controlled by nerves between the layers of muscle tissue in the intestine.

Children who have Hirschsprung disease are missing those nerves along part of the length of the intestine. This prevents the intestine from relaxing, which can cause a blockage of digested material and make it hard for poop to pass.

When Hirschsprung disease affects the entire large intestine, it's called long-segment disease. When it affects a shorter length of the colon closer to the rectum, it's called short-segment disease. It's more common for nerve cells to stop developing closer to the rectum. That's because in the womb, an unborn baby's cells develop on a pathway that starts at the top of the intestine and ends near the rectum. In Hirschsprung disease, nerve cells stop developing while on that pathway.

Doctors aren't sure why some children get Hirschsprung disease. But they do know it can run in families. It also affects boys more often than girls. Children with Down syndrome and genetic heart conditions also have an increased risk of Hirschsprung disease.

How Is Hirschsprung Disease Diagnosed?

To diagnose Hirschsprung disease, doctors often do a test called a contrast enema. Contrast is a dye put into the colon using an enema. It shows up well on X-rays and can help doctors get a clearer picture of the colon. (In kids with Hirschsprung disease, the intestine usually appears too narrow where the nerve cells are missing.)

In some cases, the doctor might do a suction rectal biopsy. This test, which can often be done in the doctor's office or at a hospital bedside, involves using a suction device to remove some cells from the colon's mucous lining. This test will show if nerve cells are missing.

For older kids, doctors may use different tests, such as manometry or a surgical biopsy. Manometry is a test in which a balloon is inflated inside the rectum to see if the anal muscle relaxes as a result. If the muscle doesn't relax, the child may have Hirschsprung disease. In a surgical biopsy, the doctor removes a sample of tissue from the colon to examine under a microscope.

How Is Hirschsprung Disease Treated?

Surgery is thought to be the most effective treatment for Hirschsprung disease. This is done in one step or two, depending on how severe it is. Children who are very sick at the time of surgery (from an inflamed intestine or poor nutrition) may need to undergo surgery in two steps.

The most common surgery to correct Hirschsprung disease involves removing the section of the intestine without nerves and reattaching the remaining section to the rectum. Often, this can be done in one step through minimally invasive (laparoscopic) surgery right after the condition is diagnosed.

In some cases, the doctor may do the surgery in two steps.

In the first surgery:

• The doctor will find the piece of intestine that has healthy nerves by doing biopsies of the intestine in surgery. Then, in a procedure called an ostomy, the doctor creates a small hole, or stoma, in the child's abdomen and attaches the upper, healthy section of the intestine to the hole.

The two types of ostomy are:

1. Ileostomy: removing the entire large intestine and connecting the small intestine to the stoma
2. Colostomy: removing just a section of the colon

The child's stool passes through the stoma into a bag that is connected to it, which needs to be emptied several times a day. This allows the child to recuperate from enterocolitis or improve their nutrition before the second surgery.

In the second surgery:

• The doctor closes the hole and attaches the normal section of the colon to the rectum.

What Happens After Surgery?

After surgery, kids often get constipated. Laxatives can offer some relief, but check with your doctor about which would be best for your child.

For children old enough to eat solid foods, a high-fiber diet can ease and prevent constipation. Drinking plenty of water is also important, and helps prevent dehydration. The large intestine helps absorb water from food, so dehydration can be a concern for children who have had part of their intestine removed.

Kids who still have symptoms or get new ones after surgery (such as explosive and watery diarrhea, fever, a swollen belly, or bleeding from the rectum) should have medical attention right away. These can be signs of enterocolitis, an inflammation of the intestines.

What Else Should I Know?

Most children treated surgically for Hirschsprung disease have an excellent outcome. Most can pass stool normally and have no lasting problems. A few kids might continue to have symptoms, including constipation and bowel control problems.