Hirschsprung Disease

Hirschsprung disease occurs when some of the nerve cells that are normally present in the wall of the intestine do not form properly during fetal development.

During digestion, intestinal muscles move food forward in a movement called peristalsis. In order for this movement to occur, special nerve cells called ganglion cells are required. Because these nerve cells are missing in children with Hirschsprung disease, normal peristaltic movement cannot occur.

Consequently, stool backs up, causing either partial or complete bowel obstruction.

Eventually, a bacterial infection can develop in the digestive tract, causing serious problems. Severe worsening of the obstruction can lead to a hole in the bowel (perforation) and severe infection.

All children with Hirschsprung disease require surgical treatment.

This condition occurs in 1 out of every 5,000 live births.

This condition occurs more frequently in boys than in girls, with as many as four boys affected for every girl. Also, children with Down syndrome have a substantially higher risk of having Hirschsprung disease.

Some cases of Hirschsprung disease can be related to a genetic (inherited) cause. There is an increased chance that a couple will have a child with Hirschsprung disease if one of the parents has the condition, and the chance is higher if it is the mother who has the condition.

If a family has a child with Hirschsprung disease, there is a 3 percent to 12 percent chance that another baby will also have it.

Eighty percent of children with Hirschsprung disease show symptoms in the first 6 weeks of life. Infants suffering from the disease usually become symptomatic during the first 24 to 48 hours of life. However, children with only a short segment of intestine that lacks normal nerve cells may not show symptoms for several months or even years. While individuals experience a range of symptoms, the following are the most common:

  • Not having a bowel movement in the first 48 hours of life
  • Gradual marked swelling of the abdomen
  • Gradual onset of vomiting
  • Fever

Children who do not have early symptoms may present with the following:

  • Sepsis (overwhelming infection)
  • Constipation that worsens over time
  • Small, watery stool
  • Loss of appetite
  • Delayed growth

Careful physical examination is required, and physical findings are dependent upon the age at presentation and the severity of the condition. Establishing the diagnosis also includes undergoing a number of diagnostic studies. These include the following:

  • Abdominal X-ray. This may indicate a bowel blockage. This study only allows physicians to suspect the diagnosis, not definitively diagnose it.
  • Contrast enemaThis is a procedure performed to examine the large intestine (colon) for abnormalities. A contrast agent is given into the rectum in order to coat the inside of organs so that they will show up on an X-ray. This is the most valuable radiologic study for establishing the diagnosis.

    An X-ray of the abdomen will show a narrowed colon, obstruction and dilated (exceptionally enlarged) intestine above the obstruction.
  • Rectal biopsy. This procedure will establish the diagnosis of Hirschsprung disease. A sample of the cells in the rectum is taken and then looked at under a microscope. Confirmation of Hirschsprung is based on the absence of ganglion cells and the presence of nonmyelinated nerves in the biopsy segment.

    In infants, a suction rectal biopsy can be done at the bedside. Since there are no sensory nerves at the site of biopsy, this is not painful. When a suction biopsy is inconclusive, surgical biopsy is performed under general anesthesia in the operating room.
  • Anorectal manometry. This determines whether normal reflexes involving the rectum and the anus are present. Used only in older children, the test can be performed at the bedside.

In all cases of Hirschsprung disease, surgery is the definitive treatment. The segment of intestine without the specialized nerves is removed. The segment of intestine that has been shown by biopsy to be normal is then pulled down to the anus.

The trend is to perform this surgery without a protective colostomy during the neonatal period. However, in many cases in which a child is ill from infections, has an obvious intestinal obstruction, has other serious conditions or has a significantly enlarged bowel, a colostomy is required.

The colostomy is placed in the part of the intestine that functions normally and the child may eat and grow. The operation to remove the abnormal segment of bowel is performed at a later date.

When there is an early diagnosis and when circumstances are favorable (such as otherwise good health and lack of infection), the definitive surgical procedure can be performed in a single stage. This can be done with a minimally invasive surgical technique, with laparoscopy, or sometimes entirely through the anus with no scars at all. With proper surgical technique of preserving the sphincters and anal canal, fecal continence should remain.

The outcome for the typical disease is good. Enterocolitis can occur postoperatively but usually disappears after the first year life.

  • Approximately 95 percent of patients eventually achieve excellent results, with normal bowel habits, no soiling and infrequent constipation.
  • Five percent of patients report troublesome constipation and / or occasional incontinence.
  • In 5 percent to 10 percent of patients, severe constipation or incontinence is a long-term issue. Severe constipation is treated primarily by dietary manipulation and laxatives. True incontinence is managed with a bowel management program.  
  • Neurologically impaired children or those with Down syndrome generally do not fare as well as other children. They have a two- to threefold increase in incontinence or severe constipation.

Some patients, particularly those with total colonic Hirschsprung disease, have an ileostomy for many months and sometimes years. These patients need to be followed closely for growth and watched carefully for dehydration.

Through the ileostomy they can lose sodium, and often sodium supplementation is needed orally. Your pediatrician or caregiver, in conjunction with a nutritionist, should be aware of this and would need to prescribe the oral sodium supplementation.

Read the Cincinnati Children's Hospital Medical Center guidelines.

For more information or to request an appointment, contact the Colorectal Center at Cincinnati Children's.

Last Updated 06/2015