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Hirschsprung’s disease (also called aganglionosis coli) is a rare congenital anomaly affecting roughly 1 in 5,000 children. During the 7th or 8th week of pregnancy, nerve cells called ganglion cells usually connect the nervous system to the intestine, so that nerves can later stimulate contractions of the muscle in the wall of the intestine to propel food and other intestinal contents “downstream” to the anus. This allows normal eating, digestion, and defecation (passage of stool). In Hirschsprung’s patients, those ganglion cells are not present in the lowest part of the intestine (the large intestine, which is also called the colon). As a result, digested food and stool does not pass normally through the colon.
Children with Hirschsprung’s disease are usually symptomatic during the first several days of life. Typically, they will fail to pass meconium (the newborn’s “first stool”) during the first 24 hours of life and then develop abdominal swelling (distension) and even vomiting. Abdominal X-rays usually show air-filled dilated loops of intestine.
Hirschsprung’s disease is usually diagnosed with two tests:
Hirschpsrung’s disease can usually be cured with a series of somewhat-complex surgical procedures. Under general anesthesia, in the operating room, a small laparoscope may be introduced into the abdomen to visualize the intestine and the location of the “transition zone.” Then small instruments can be inserted to remove the abnormal intestine (lacking ganglion cells) which is then removed through the anus. The “good intestine” (upstream from the Hirschsprung’s disease) can then be brought down through the pelvis and connected with sutures to the anal area. The “good intestine” is, essentially, “pulled through” the pelvis so these operations are termed “pull-through procedures.”
Initial success with various pullthrough operations was achieved by a number of surgeons including Swenson, Soave, and Duhamel and therefore different pullthrough operations carry their names. In the early 1990’s, advances in minimally-invasive techniques allowed the pullthrough operations to be done laparoscopically. Many children can now be treated successfully with these techniques.
Read the surgical guidelines the treatment of Hirschpsrung’s disease developed by the International Pediatric Endosurgery Group.
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