Hirschsprung Disease

Hirschsprung disease is a condition you are born with that stops or slows the movement of food and waste through the intestine. 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 only a very small portion of intestine involved may not have symptoms until they are several months or even years old. Children who have a long segment of intestine involved will become sick quickly. 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

  • An x-ray of the abdomen can show intestinal blockage
  • Contrast enema: fluid that shows up on x-ray is given through the rectum to show a picture of the rectum and colon, the areas most commonly involved in Hirschsprung disease
  • Rectal biopsy: A procedure that takes a small piece of tissue from the rectum (the lowest part of the large intestine) to look for nerve cells under a microscope.
  • Anorectal manometry: A procedure used in older children to measure pressure changes in the colon and rectum to determine if the bowel if functioning normally

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. Some patients, especially those whose entire colon is affected by Hirschsprung disease, may need an ileostomy for several months 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 the body can pass waste normally. In most cases, this can be done as a minimally invasive (laparoscopic) surgery.

Long-term complications

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

  • Constipation
  • Diarrhea
  • Fecal soiling
  • Frequent episodes of infection (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.