Learn more about treating Hirschsprung's Disease
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), and when they are missing the stool stops and an obstruction occurs. The length of affected bowel varies, but the most common transition point is in the upper rectum or the sigmoid colon. Hirschsprung's disease is also called megacolon. It is a congenital disease, which means a person is born with it. The disease may also be hereditary, which means a parent can pass it to a child. Hirschsprung's disease affects mainly infants and children.
Although symptoms usually begin within a few days after birth, 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 1) vomiting and abdominal distention as a newborn, 2) chronic constipation, or 3) 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.
Similar to high anorectal malformations, children with Hirschsprung's disease used to routinely have a colostomy done at the time of diagnosis, with definitive reconstruction done at a later stage. In the past 10-15 years, an increasing number of surgeons have been performing a single-stage repair in most cases. More recently, less invasive operations using laparoscopy or a transanal "incisionless" approach have been used by many surgeons, with 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 defecatory problems in the form of enterocolitis, incontinence, and persistent constipation. Incontinence may be caused by sphincter damage at the time of the operation, abnormal sensation, or overflow associated with chronic constipation. Anorectal manometry, a test in which the pressures in the anal sphincter are measured, may be very helpful in determining the cause in an individual patient.
Persistent constipation can be a frustrating problem after a pullthrough. Some patients may have mechanical causes such as a stricture, and rare patients may have recurrence of the Hirschsprung's disease. Although many of these children can be managed without repeat pullthrough surgery, some may require an additional operation. In the majority of children with persistent constipation, the problem is that the internal anal sphincter doesn't relax normally, making it difficult to push stool past it. Most of these children can successfully be managed using laxatives or enemas, but if problems continue many surgeons recommend cutting the sphincter to "relax" it (sphincterotomy or myectomy). [A possible complication is incontinence.] In an attempt to avoid the potential incontinence associated with a sphincter cutting procedure, an alternative approach is the use of botulinum toxin (Botox) in these patients. Although not all children improve with this approach, those who do can be treated by repeated injections of botulinum toxin, and in most cases the problem resolves by itself by the age of five or six.
Langer JC. Disorders of defecation in children: what is the role of the surgeon. Digestive Health Matters, Spring 2002
Medical College of Wisconsin Physicians and Clinics. Hirschsprung's disease (megacolon). June 1999.
Langer JC. Hirschsprung's disease. IFFGD, No. 803, 2002.
© 2006 IFFGD. Reprinted with permission from IFFGD, the International Foundation for Functional Gastrointestinal Disorders, a nonprofit organization. For more from IFFGD go to their websites at www.iffgd.org or www.aboutkidsgi.org.