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Hirschsprung Disease

08/31/2023 Conditions

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Hirschsprung disease is a condition children are born with that stops or slows the movement of food and waste through the intestine. It affects about 1 in 5,000 children. It is caused by a problem with the nerve cells in the rectum or colon (the lower part of the intestine). Normally these nerves help the muscles in the wall of the bowel squeeze and relax, pushing food and waste along the way. When these nerves are missing, the bowel cannot push the digested food through, and children cannot have normal bowel movements or have fewer bowel movements than normal.

Symptoms

Symptoms can vary depending on how much of the intestine is affected. Children with a very small portion of intestine involved may not have symptoms until they are several months or even years old. Children with a longer segment of intestine involved may have symptoms earlier in life or have more severe symptoms. Common symptoms include:

  • No stool in the first 2 days of a baby’s life
  • Swelling or bloating of the abdomen
  • Constipation
  • Vomiting
  • Fever

Older children may have these symptoms:

  • Chronic constipation
  • Poor growth (failure to thrive)
  • Passage of small, watery stools
  • Poor appetite

Diagnosis

  • A physical exam by the doctor may show abdominal bloating. The doctor may also perform a rectal exam to check for stool.
  • An X-ray of the abdomen may show intestinal blockage.
  • Contrast enema: In this study, a special fluid is given through the rectum and a series of X-rays are taken in order to see the shape of the colon and rectum (the parts of the intestine most commonly involved in Hirschsprung disease).
  • Rectal biopsy: In this procedure, a small piece of tissue is taken from the rectum (the lowest part of the large intestine) to look for nerve cells under a microscope. The surgeon may perform this procedure in the office or in the operating room under sedation.
  • Anorectal manometry: This procedure involves using a special instrument to measure pressure changes in the colon and rectum to determine if the bowel if functioning normally. The gastroenterologist may perform this procedure in older children.

Treatment

Irrigation

As a first step after diagnosis, doctors will irrigate the intestine through the rectum to remove trapped stool. In most cases this will successfully clear the stool and can be done until the time of surgery. Doctors will teach you how to perform an irrigation at home.

Some children, especially those with a longer segment of intestine involved, may need an ostomy until they are big and healthy enough to have the diseased portion of intestine removed.

Surgery

All children with Hirschsprung disease eventually have surgery to remove the portion of intestine that isn’t working properly. The healthy intestine is then reconnected to the anus so that stool can pass normally. In most cases, this can be done as a minimally invasive (laparoscopic) surgery.

Long-term care

Even after surgery, children with Hirschsprung disease need specialized care. There are several problems that can occur:

  • Constipation
  • Diarrhea
  • Fecal soiling
  • Frequent episodes of gastrointestinal infection (Hirschsprung-associated enterocolitis)

Whether the initial surgery was done at Texas Children’s Hospital or elsewhere, we are able to evaluate and care for children with each of these problems with our multidisciplinary team.

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