Hirschsprung’s Disease

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What is Hirschsprung’s disease?

Hirschsprung’s 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’s 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’s disease require surgical treatment.

How often does Hirschsprung’s disease occur?

This condition occurs in 1 out of every 5000 live births.

Who is at risk for Hirschsprung’s disease?

This condition occurs more frequently in boys than in girls, with as many as 4 boys affected for every girl. Also, children with Down syndrome have a substantially higher risk of having Hirschsprung’s disease.

Some cases of Hirschsprung’s disease can be related to a genetic (inherited) cause. There is an increased chance that a couple will have a child with Hirschsprung’s 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’s disease, there is a 3% to 12% chance that another baby will also have it.

What are the symptoms of Hirschsprung’s disease?

Eighty percent of children with Hirschsprung’s disease show symptoms in the first 6 weeks 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

How is Hirschsprung’s disease diagnosed?

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.
  • Contrast enema:This is a procedure performed to examine the large intestine (colon) for abnormalities. A contrast agent such as barium (a chalky liquid) is given into the rectum in order to coat the inside of organs so that they will show up on an X-ray. 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’s disease. A sample of the cells in the rectum is taken and then looked at under a microscope. 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 or in older children, surgical biopsy is performed under general anesthesia in the operating room.
  • Anal manometry:This determines whether normal reflexes involving the rectum and the anus are present. Used only in older children, the test can be arranged by your gastroenterologist.

How is Hirschsprung’s disease treated?

In all cases of Hirschsprung’s 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.

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. Today, many operations are performed in the neonatal period (first month of life). We employ the less invasive laparoscopic surgical technique of primary pull through avoiding the pain and scarring of the traditional open operation. Your child will have less pain, better cosmesis, and recovery time is often shortened.

In a small percentage of patients with short segment involvement of the colon, the entire procedure can be done through the anus, without entering the abdomen. When surgery is performed with this approach, recovery time can be even shorter.

 

Are there any long-term complications?

  • Approximately 70% to 85% of patients eventually achieve excellent results, with normal bowel habits, no soiling and infrequent constipation.
  • 15% to 20% of patients report troublesome constipation and /or occasional incontinence.
  • In 5% to 10% of patients, severe constipation or incontinence is a long-term issue. Severe constipation is treated primarily by dietary manipulation, stool softeners, laxatives and occasionally anal dilatation (stretching).
  • 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. In some cases the problem can be so refractory to medical therapy that additional procedures are indicated: rectal biopsy, creation of antegrade enema conduit (mace), or creation of diverting colostomy.

 

Source: Cincinnati Children’s Hospital Medical Center

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