| Hirschsprungs disease (also called congenital aganglionic megacolon) is an uncommon condition that occurs in 1 in every 5000 births and is more common in boys. It is caused by a lack of ganglion cells (nerve cells) in the end of the colon and rectum, causing it to be contracted and blocking the passage of stool out of the colon. This causes constipation, which is the classic symptom of this disorder.
A baby will normally pass meconium within the first two days of life. Many children with Hirschsprungs disease have a delay in passing meconium, or they develop chronic constipation later in the first month of life. This can cause an intestinal obstruction, which may then lead to abdominal distention, vomiting, poor feeding, and poor weight gain.
Children who are suspected of having Hirschsprungs disease should be examined by their Pediatrician, who do a rectal exam, which should show normal tone and an absence of stool (which you would normally expect to be present in a child with constipation). When the finger is removed after the rectal exam, there is usually a large amount of loose stool that is explosively forced out.
Testing that can be done to diagnosis Hirschsprungs disease include x-rays, which may show gaseous distention of the intestines and an absence of gas and stool in the rectum, a barium enema, which may show a transition zone or an area between the normal colon and the constricted area that is affected by the lack of ganglion cells, anal manometry, a test that measures the pressure of the internal anal sphincter in the rectum, and to confirm the diagnosis, a rectal biopsy is done, which should show the lack of ganglion cells.
Testing for suspicion of Hirschsprungs should usually start with a barium enema. It the barium enema is normal, then there is a very low chance of the child having Hirschsprungs. Children with an abnormal barium enema or who fail regular medical treatments for constipation should then go on to have a rectal biopsy.
Treatment of Hirschsprungs disease is by surgical repair, which consists of first creating a colostomy and then later removing the part of the colon without the ganglion cells and connecting the healthy parts back together.
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