At a Glance
- Hirschsprung’s disease is a rare condition that people are born with
- Symptoms usually appear in newborns, but may also appear in childhood or adulthood
- Diagnosis is usually made within the first few months or years of life
- Sometimes diagnosis is made in adulthood
- Tests confirm the diagnosis
- Treatment is surgical
- Some symptoms may persist after surgery and need medical management
Hirschsprung's Disease Defined
Children with Hirschsprung's disease are missing the nerve cells (ganglion cells) within the wall of their colon or rectum. These cells are responsible for the normal wave-like motion of the bowel (peristalsis). When they are missing the stool stops and an obstruction occurs. The length of affected bowel varies. The most common transition point is in the upper rectum or the sigmoid colon.
Hirschsprung's disease is a congenital disease. That means a person is born with it. The disease may also be hereditary, which means a parent can pass it to a child.
Symptoms usually begin within a few days after birth. But some people don't develop them until childhood or even adulthood.
In infants, the primary symptom is not passing meconium, an infant's first bowel movement, within the first 24 to 48 hours of life. Other symptoms include:
- Vomiting and abdominal distention as a newborn
- Chronic constipation
- More rarely diarrhea, fever, and distention (symptoms associated with enterocolitis – inflammation of the small intestine and colon).
Symptoms in older children include passing small watery stools, diarrhea, and a lack of appetite.
The diagnosis is made by a combination of barium x-rays and rectal biopsy. In a lower GI series, x-rays are used to measure the width of the colon and rectum. Rectal biopsy involves removing a piece of rectal tissue to learn whether the nerve cells that control intestinal muscle contractions are present. Rectal manometry, a test that involves recording pressure changes within the colon and rectum, is sometimes performed.
The treatment of Hirschsprung's disease is primarily surgical. The goal of surgery is to remove the abnormal bowel and attach the normal bowel to the anus just above the sphincter. The three commonly performed operations, known as pullthrough procedures, are called the Swenson, Duhamel, and Soave operations. The long-term results appear to be similar whichever operation is used.
Recently the surgery is being performed in the newborn period using minimally invasive surgical techniques, like laparoscopy. This is intended to result in shorter hospital stays, less pain, and less scarring.
Although most children have excellent results following surgery for Hirschsprung's disease, approximately 10-20% experience continued problems. These include enterocolitis, incontinence, and persistent constipation.
Infection or inflammation of the intestines continues to be the major cause of complications in Hirschsprung’s disease. It generally appears suddenly with rapid progression and requires immediate doctor care. Symptoms include abdominal distention, explosive diarrhea, vomiting, fever, lethargy, and rectal bleeding. Non-operative management in a hospital is usually needed.
The treatment of the fecal incontinence is complex. It includes treatment of constipation, biofeedback, and at times enemas, or more recently, antegrade colonic enemas.
Persistent constipation can be a frustrating problem after a pullthrough. Some patients may have mechanical causes such as a stricture. Rarely a patient may have recurrence of the Hirschsprung's disease. Many of these children can be managed without repeat pullthrough surgery. Some may require an additional operation.
In most children with persistent constipation, the problem is that the internal anal sphincter doesn't relax normally. This makes it difficult to push stool past it. Most of these children can successfully be managed using laxatives or enemas. An alternative approach is the use of Botox. Although not all children improve with this approach, those who do can be treated by repeated injections of Botox, and in most cases the problem resolves by itself by the age of five or six.
The first surgical curative technique for Hirschsprung’s disease was described in 1948. Since then there have been many advances in treatment. In spite of these advances, problems after surgery may continue to occur. Recently, research has produced a better understanding of the disease. Continued efforts are needed to improve treatments for these patients.
Follow-up visits after surgery are important to monitor progress and deal with possible complications. Hirschsprung's disease is uncommon, so your child may be your primary care physician's only Hirschsprung's patient. Your surgeon, pediatrician, or family physician may refer you to a pediatric gastroenterologist, especially if there are chronic problems.
- Langer JC. Disorders of defecation in children: what is the role of the surgeon. IFFGD Fact Sheet No. 816; 2002.
- Medical College of Wisconsin Physicians and Clinics. Hirschsprung's disease (megacolon). June 1999.
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Adapted from IFFGD Publication #803 by Jacob C. Langer, MD, Professor of Surgery, University of Toronto, Chief, Division of Pediatric General Surgery, Hospital for Sick Children, Toronto, Ontario, Canada, and IFFGD.