Hirschsprung’s Disease

Diagnosis

Diagnosing Hirschsprung disease usually begins with a healthcare professional performing a physical examination and asking about the child’s bowel movements. Because symptoms often resemble other digestive issues, further tests are used to confirm the condition or rule out other causes.

Common diagnostic tests include:

• Colon tissue biopsy: This is the most reliable test for diagnosing Hirschsprung disease. A small sample of colon tissue is collected using a suction device and examined under a microscope to determine whether nerve cells are missing.

• Stomach X-ray with contrast dye: A contrast dye is inserted into the bowel through a tube placed in the rectum. The dye outlines the colon and rectum, showing the transition between the part lacking nerve cells and the swollen section behind it.

• Anal manometry: Typically done in older children and adults, this test measures how the muscles around the rectum respond when a small balloon is inflated. If the muscles do not relax properly, it may indicate Hirschsprung disease.

Treatment

The primary treatment for Hirschsprung disease is surgery to remove or bypass the section of the colon missing nerve cells. The goal is to restore normal bowel function and relieve symptoms such as constipation and abdominal swelling.

Pull-through surgery
In this procedure, the diseased section of the colon is removed, and the healthy portion is connected directly to the anus. The surgery is often done using minimally invasive techniques through the anus.

Ostomy surgery
For children who are very ill, surgery may be completed in two stages:

• In the first stage, the diseased part of the colon is removed, and the healthy section is connected to a stoma, an opening in the abdomen. Stool passes through the stoma into a collection bag.

• After the colon heals, a second surgery reconnects the healthy intestine to the rectum or anus and closes the stoma.

Results of surgery
Most children are able to pass stool normally after surgery. However, some may experience complications such as constipation, diarrhea, stool leakage, or delays in toilet training. These issues often improve with time.

Children remain at risk of developing enterocolitis after surgery, particularly in the first year. Seek immediate medical attention if symptoms such as fever, vomiting, abdominal swelling, diarrhea, or rectal bleeding occur.

Self care after surgery
To help manage constipation and promote healing:

• Serve high-fiber foods such as fruits, vegetables, and whole grains if your child eats solids. Introduce fiber gradually to avoid worsening constipation.

• Ensure your child drinks plenty of fluids to stay hydrated, especially if part of the colon has been removed.

• Encourage daily physical activity to support regular bowel movements.

• Use laxatives only under medical guidance if dietary and lifestyle changes are not effective.

Preparing for your appointment
If your child shows symptoms of Hirschsprung disease, such as constipation or a swollen abdomen, consult a healthcare professional. You may be referred to a gastroenterologist or the emergency department depending on symptom severity.

To prepare:

• Note your child’s bowel habits, including frequency, consistency, and color.

• Record medical history, medications, and supplements.

• List questions about treatment options, surgery, and recovery.

• Bring a family member to help recall important information during the visit.

Discuss with your doctor what tests are needed, the surgical options available, possible risks, and long-term expectations after treatment.