Hirschsprung's Disease

What is Hirschsprung’s disease?

Hirschsprung’s disease is a condition your child is born with (congenital) that slows or stops the movement of waste (poop) through their colon. Your child’s healthcare provider may also call it congenital megacolon. In Hirschsprung’s disease, nerve cells don’t develop as they should near the end of your baby’s large intestine.

When digestion happens as expected, nerve cells send signals telling muscles in your colon to tense and relax. These specific nerve cells are called neural crest cells. This tensing and relaxing moves waste (poop) along, from the beginning to the end of your intestines. Eventually, the waste fills your rectum, which activates nerves in the lining of your anus (butthole) that make it feel like you have to poop.

If your baby has Hirschsprung’s disease, poop moves through their intestines until it reaches the section that’s missing nerve cells. Once the poop reaches that point, it moves slowly or stops (constipation).

Without treatment, Hirschsprung’s disease can cause serious complications.

How common is Hirschsprung’s disease?

Hirschsprung’s disease occurs in about 1 out of 5,000 births. It is three to four times more common in people assigned male at birth (AMAB) than people assigned female at birth (AFAB).

What are the symptoms?

Some babies with Hirschsprung’s disease have blocked intestines at birth. There’s a chance your baby has Hirschsprung’s disease if they don’t poop within 48 hours after birth.

Other symptoms of Hirschsprung’s disease in babies may include:

• Swollen belly.
• Constipation.
• Vomiting.
• Diarrhea.
• Lack of appetite (refusing to eat) and poor weight gain.
• Delayed growth.

What causes Hirschsprung’s disease?

During fetal development, neural crest cells typically grow from the top of the small intestine through the large intestine to the anus. In children with Hirschsprung disease, these nerve cells stop growing in the large intestine before reaching the anus. Healthcare providers aren’t sure why this happens.

Less than 20% of the time, Hirschsprung’s disease runs in families. A change in a gene (genetic mutation) may be the cause.

What are the risk factors for this condition?

Aside from having a biological parent or sibling with the condition, risk factors for Hirschsprung’s disease include having:

• Congenital heart disease.
• Down syndrome.

What are the complications of this condition?

Up to 40% of children with Hirschsprung’s disease develop enterocolitis. This condition is the swelling of your child’s small and large intestines. Some children have mild inflammation. Others have severe symptoms that can be life-threatening. If your child has severe enterocolitis from Hirschsprung’s disease, they may have fever and explosive diarrhea.

Severe or untreated Hirschsprung’s disease can lead to these potentially life-threatening problems:

• Large bowel obstruction: A large bowel obstruction stops food from passing through your baby’s large intestine.
• Toxic megacolon: This rare, life-threatening condition causes your baby’s colon to widen and expand. Gas and poop can’t move through their swollen intestine. As pressure builds up, bacteria leak from the intestine into their bloodstream. This can cause enterocolitis and a deadly condition called sepsis. In extreme cases, your baby’s intestine could develop a hole or perforation.

Other complications include:

• Accidental pooping.
• Diarrhea.
• Fever.
• Malnutrition.
• Severe constipation.
• Swollen belly.
• Vomiting.

How is Hirschsprung’s disease diagnosed?

Your baby’s healthcare provider will check their belly to see if it’s swollen and painful. Then they’ll check your baby’s rectum for backed-up poop.

Your child’s provider may also perform one or more of these tests:

• X-ray: Abdominal X-rays can show a blockage in your baby’s intestine.
• Contrast enema: A healthcare provider inserts a catheter (a thin tube) through your baby’s rectum. The catheter fills their intestine with contrast, a safe liquid. A technician takes X-rays as the contrast travels through your baby’s intestine. This exam shows if there are any blockages or narrowing in your child’s intestines.
• Biopsy: Your baby’s healthcare provider uses a special device to remove a small amount of tissue (biopsy) from your baby’s rectum. A pathologist then looks at the tissue under a microscope to check for nerve cells. This procedure isn’t painful and doesn’t require anesthesia.

How is Hirschsprung’s disease managed and treated?

There’s no cure for Hirschsprung’s disease, but surgical treatment often results in a positive outcome. There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy.

Pull-through procedure

A surgeon removes the section of your baby’s large intestine that’s missing nerve cells. Then they connect the healthy part of your baby’s large intestine to their anus. The surgeon may use laparoscopic or traditional surgery to perform the pull-through procedure.

The pull-through procedure is the most common surgery for Hirschsprung’s disease and has the best outcome for recovery.

Ostomy surgery

Your baby may need a colostomy (large intestine) or ileostomy (small intestine) before, or at the same time as, a pull-through procedure.

During ostomy surgery, surgeons connect the large or small intestine to the skin outside your baby’s belly. Ostomy surgery allows poop to leave your baby’s body through an opening (stoma) outside of your baby’s anus, usually around their belly. The poop goes into an ostomy bag attached to your baby’s body.

Additional treatments

Some nonsurgical treatments work well in addition to surgery. They include:

• Bowel management: A routine involving medicines and/or enemas to make sure your child’s pooping habits are healthy.
• Sacral nerve stimulation: A surgeon inserts a tiny device near your lower spine to control when you pee and poop.
• Biofeedback: Therapy that involves learning strategies to have more control over involuntary bodily functions — in this case, pooping.

What are the complications or side effects of pull-through surgery?

Children with Hirschsprung’s disease often feel much better soon after pull-through surgery. But some children may still have problems after they heal, including:

• Accidental pooping (fecal incontinence).
• Constipation.
• Inflamed intestines (enterocolitis).

Your baby’s surgeon and sometimes a gastroenterologist will help with the management of these problems.

How soon after treatment will my child feel better?

If everything goes well, your baby will feel much better a few days after surgery.

There’s no cure for Hirschsprung’s disease, but surgical treatment often results in a positive outcome. There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy.

How can I prevent Hirschsprung’s disease?

No one can prevent Hirschsprung’s disease. If you have the disease or a family history of it, you may want to meet with genetic counselors before starting a family.

What’s the outlook after surgery?

After surgery, some babies with Hirschsprung’s disease may still have constipation, pooping accidents and colon infections. But with long-term follow-up care, most children can manage pooping without becoming severely constipated or developing fecal incontinence.

How can I help my child cope with Hirschsprung’s disease?

Treatments that can help your child manage Hirschsprung’s disease after surgery include:

• Nutritional guidance.
• Regular care from a gastroenterologist and dedicated nurse.
• Biofeedback / pelvic floor rehabilitation.
• Therapy from a psychologist or social worker.

Talk with your child’s healthcare providers. They’ll work with you to figure out the best foods and therapies to help your child overcome any challenges.

When should I call the doctor about my baby’s Hirschsprung’s disease?

Children can get enterocolitis in their intestines after surgery, especially in the first year. Call the doctor right away if your child shows any of these symptoms:

• Bleeding from their rectum.
• Diarrhea.
• Fever.
• Swollen belly.
• Vomiting.

A note from Cleveland Clinic

Just because your baby is born with Hirschsprung’s disease doesn’t mean they won’t live a happy and healthy life. Surgery is used to treat the disease, but the time leading up to the surgery can be stressful.

You’ll need to watch your baby carefully for signs of intestinal blockage. This time can be especially challenging since you’ve just had a baby. It’s not unusual to be sad or scared. Lean on your family and friends for support when you need it. Let them do the laundry and help with chores at home or meals so you can spend time with your baby or take a nap.