Hirschsprung Disease

What are the signs and symptoms of Hirschsprung disease in babies and kids?

One of the first signs that a newborn baby may have Hirschsprung disease is that their first bowel movement is delayed by more than 24 hours. When a baby is born, they typically have their first poop within the first 24 hours. If it takes longer – especially longer than 48 hours – this may be a sign that their colon is blocked.

Not having normal bowel movements can cause a wide range of complications, including abdominal distension, fever, vomiting, dehydration and colitis. This range of symptoms can make diagnosing Hirschsprung disease more difficult.

What tests are used to diagnose Hirschsprung disease?

If a baby displays the signs and symptoms of Hirschsprung disease, doctors will perform the following tests to reach a diagnosis:

1. X-ray of the abdomen and colon: In Hirschsprung disease, the part of the intestine that is missing ganglion cells will appear shrunken and the area above will appear bloated, as it is most likely backed up with digested food and stool.
2. Rectal biopsy: Doctors will take a small sample of the rectum and examine it under a microscope to confirm the absence of ganglion cells. The absence of these nerve cells is a sign of Hirschsprung disease.
3. X-ray with contrast enema: Doctors will take another X-ray adding a contrast enema with liquid such as iodine to produce a more detailed version of the image. This detailed image will help the surgeon decide what type of operation will be best for treatment.

At Children’s Colorado, our team has extensive experience testing babies and children for Hirschsprung disease. We use the most advanced technology available to ensure we produce accurate test results in the least disruptive way possible.

What to expect from Hirschsprung disease testing

Rectal biopsy for Hirschsprung disease

The rectal biopsy for a baby less than 3 months old uses a modern device specifically designed for newborns. This is a painless procedure in which doctors take a small tissue sample of the rectum and examine it under a microscope. If the patient is older than 3 months, we will perform the procedure using anesthesia to help control pain. Test results are usually available within 48 hours.

X-ray with contrast enema for Hirschsprung disease

Our radiologists will perform the contrast enema together with our child life team, a group of medical professionals who help ease the stress and anxiety of medical procedures for kids. The contrast enema for Hirschsprung disease takes about 20 minutes. We will explain the results with parents that same day.

How is Hirschsprung disease treated?

While the exact procedures may vary for each patient, surgery for Hirschsprung disease typically includes four steps:

1. Clearing the initial obstruction in the colon or rectum to relieve pressure and allow stool and gas to pass through
2. Removing the aganglionic section (area missing ganglion cells) of the colon
3. Connecting the healthy part of the colon to the rectum to establish a way to pass stool
4. Closing the incision

Steps 2 and 3 make up what is called the “pull-through procedure.” This operation, or some variation of this technique, is the most common surgical procedure used to treat Hirschsprung disease.

Why choose us for treatment of Hirschsprung disease?

At Children’s Colorado, our International Center for Colorectal and Urogenital Care is among the best in the world. Our colorectal surgeons have extensive experience diagnosing and treating babies and children with this rare and lifelong condition. In fact, our pediatric colorectal surgeon, Luis De La Torre, MD is actually the surgeon who, in 1998, pioneered a pull-through technique using a transanal approach, which is now used around the world to treat Hirschsprung disease. This pull-through technique is known as the “De La Torre pull-through.”

Our caregivers are among the most renowned and experienced surgeons focusing on Hirschsprung disease today. Their extensive experience has come after more than 1,500 operations on patients with widely ranging forms of Hirschsprung disease. Children’s Colorado continues to pioneer treatment for this disease and other colorectal conditions.

In addition to having the foremost experts in colorectal surgery, we use the most advanced technology available. By combining specialized expertise with the newest machines and equipment, we are able to offer the best treatment and care for every patient.

Helpful resources

To learn more about Hirschsprung disease, we recommend the following resources:

• The National Organization for Rare Disorders (NORD): A nonprofit patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them
• The Pull-Thru Network: A volunteer-based nonprofit organization dedicated to providing support and education to families and others affected with congenital anorectal, colorectal and urogential disorders and any other associated diagnosis
• Hirschsprung Disease Research Collaborative (HDRC): A group of surgeons, geneticists, gastroenterologists, pathologists, and other specialists that are doing research to advance the field of Hirschsprung disease
• Colorectal Support Network: A closed group on Facebook made up of parents and patients with congenital colorectal conditions that offer support to each other