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.
This condition occurs in 1 out of every 5,000 live births. It 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 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% to 12% chance that another baby will also have it.
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.
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
All children with Hirschsprung disease require surgical treatment. The segment of intestine without the specialized nerves is removed. Then the segment of intestine that has been shown by biopsy to be normal is 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.
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.
The outcome for the typical disease is good. Enterocolitis can occur postoperatively but usually disappears after the first year of life.
- Approximately 95% of patients eventually achieve excellent results, with normal bowel habits, no soiling and infrequent constipation.
- 5% 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 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.