Kids' Health Commonly Prescribed Drugs Print Hirschsprung's Disease Symptoms and Treatments Medically reviewed by facebook Medically reviewed by Jonathan B. Jassey, DO on November 28, 2019 Jonathan Jassey, DO is a private pediatrician at Bellmore Merrick Medical and is board certified by the American Academy of Pediatrics. Learn about our Medical Review Board Jonathan B. Jassey, DO on November 28, 2019 Written by facebook Written by Vincent Iannelli, MD Vincent Iannelli, MD, is a board-certified pediatrician and fellow of the American Academy of Pediatrics. Dr. Iannelli has cared for children for more than 20 years. Learn about our editorial policy Vincent Iannelli, MD Christopher Furlong/Getty Images More in Kids' Health Commonly Prescribed Drugs Cold & Flu Chicken Pox Childhood Obesity & Overweight Kids Fever Head Lice Measles Kids' Skin Health Common Childhood Infections Teen Health Issues Special Needs Health Issues Preemie Health Issues View All Hirschsprung's disease is a congenital cause of intestinal blockage or obstruction. What Is Hirschsprung's Disease? Hirschsprung's disease is uncommon, occurring in about 1 in every 5,000 births. It is caused by a lack of ganglion cells (nerve cells) at the end of the colon and rectum. Normal peristalsis requires these ganglion cells, so without them, you don't get the wave-like contractions of the intestines that move things along, causing them to become contracted and blocking the passage of stool out of the colon. This leads to constipation, which is the classic symptom of this disorder. Symptoms Newborn babies will usually pass their first bowel movement (the black tarry meconium) within the first twenty-four hours of life. Most of the children with Hirschsprung's disease will have a delay in passing meconium. Some others will develop chronic constipation later in the first month of life. Either way, it can lead to intestinal obstruction, with many associated signs and symptoms, including: Abdominal distentionVomiting, which can be biliousPoor feedingPoor weight gain Testing Testing that can be done to diagnosis Hirschsprung's disease and includes: X-rays, which may show gaseous distention of the intestines and an absence of gas and stool in the rectumA 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 cellsAnal manometry, a test that measures the pressure of the internal anal sphincter in the rectum To confirm the diagnosis, a rectal biopsy is done, which should show the lack of ganglion cells in the end of the colon and rectum. Testing for the suspicion of Hirschsprung's should usually start with a barium enema. If the barium enema is normal, then there is a very low chance of the child having Hirschsprung's. Children with an abnormal barium enema or who fail regular medical treatments for constipation should then go on to have a rectal biopsy. Treatments Treatment of Hirschsprung's 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 (pull-through operation). It is sometimes possible to do a single-stage pull-through procedure or even to do the surgery laparoscopically. The type of surgical repair will likely depend on your child's specific case. For example, some infants are too sick when they are first diagnosed to have one stage surgery. What You Need to Know About Hirschsprung's Disease Other things to know about Hirschsprung's disease include that it: Is also called congenital aganglionic megacolonIt is more common in boysIt can be associated with Down syndrome, Waardenburg syndrome, neurofibromatosis, and other syndromes and is thought to be caused by mutations in many different genesAlthough typically a disease of newborns, Hirschsprung's is sometimes suspected in older children with chronic constipation, especially if they never had normal bowel movements on their own without the aid of enemas or suppositories or didn't develop chronic constipation until after they were weaned from breastfeedingWas named for Harald Hirschsprung, a pathologist who described two children with the disorder in 1887 Copenhagen A pediatric gastroenterologist and a pediatric surgeon can be helpful in diagnosing and treating your child with Hirschsprung's disease. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial policy to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Hirschsprung's Disease. Pediatric Gastrointestinal and Liver Disease (Fourth Edition), 2011, Pages 576-582.e2 Hirschsprung Disease. Pediatric Surgery (Seventh Edition), 2012, Pages 1265-1278 Continue Reading