Hirschsprung's Disease
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View a video clip from WLWT-TV about a patient who traveled from Ethiopia for life-saving treatment for Hirschsprung's Disease.
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. 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
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. This study only allows physicians to suspect the diagnosis, not definitively diagnose it.
- Contrast enema - This 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's disease. A sample of the cells in the rectum is taken and then looked at under a microscope. Confirmation of Hirschsprung’s is based on the absence of ganglion cells and the presence of nonmylinated 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.
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.
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.
Are there any long-term complications?
The outcome for the typical disease is good. Enterocolitis can occur postoperatively but usually disappears after the first year 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.
Sodium supplementation for patients with an ileostomy
Some patients, particularly those with total colonic Hirschsprung's 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 Hosptial Medical Center guidelines.
Request an Appointment or contact the Colorectal Center at Cincinnati Children's
For more information or to request an appointment, please contact the Colorectal Center at Cincinnati Children's.
Rev. 6/09
