Your child may need to undergo one or more tests in order to be properly diagnosed with Hirschsprung’s disease. Most newborns will have the following tests: There are other tests that, when abnormal,
suggest that Hirschsprung's may be present. Your child may need to have more testing or a biopsy to confirm or to rule out this diagnosis. What are the treatment options for Hirschsprung's disease?Our surgeons frequently perform a single operation to fix intestinal obstruction when Hirschsprung's disease is initially diagnosed. The goal of the surgery is to remove the diseased section of the intestine and to pull the healthy portion of the intestine down to the anus. This is called a pull-through procedure. In most cases, this surgery can be done with minimally invasive techniques. It can sometimes be performed entirely through the anus, leaving no scars at all. Your surgeon can discuss different surgical techniques with you to determine the best option for your child. What is the outlook for children with Hirschsprung's disease?It is not uncommon for children with Hirschsprung's disease to continue to have problems after surgery. At Boston Children's, our gastroenterologists are dedicated to evaluating and caring for children who continue to have issues related to this disease. These problems depend on how much unhealthy intestine needed to be removed during surgery and the current functioning of the colon, rectum, and anus. Possible problems include:
Children who have had a large section of intestine removed may also experience long-term digestive problems. Removing a large segment of the intestine can prevent a child from getting adequate nutrients and fluids, leading to problems with improper digestion, slow growth, and infection. If your child still having problems following a pull-through procedure, the following tests may be done to determine what is happening:
Our team will provide a thorough evaluation to locate the problem using one or more advanced diagnostic tests, such as anorectal manometry, a barium enema, or a biopsy of the rectum or colon. These tests can provide doctors with a clear picture of how the colon is working after surgery and whether the repair was successful. Our doctors will then collaborate on a treatment plan that may include:
How we care for Hirschsprung’s diseaseHirschsprung's disease causes 15 to 20 percent of intestinal obstructions that occur in newborns. These obstructions require surgery. The Colorectal and Pelvic Malformation Center and Motility and Functional Gastrointestinal Disorders Center at Boston Children’s Hospital specialize in the primary treatment and follow-up care of children with Hirschsprung's disease, while specialists from the Department of Surgery treat children who need their first pull-through procedure. After surgery, your child will be followed by a gastroenterologist to help address chronic constipation and other possible consequences of Hirschsprung's disease. Sometimes, children aren’t diagnosed at birth and may later show symptoms of severe constipation and a distended abdomen. When this happens, they often are diagnosed with Hirschsprung's disease by a pediatric gastroenterologist. How does Hirschsprung disease cause diarrhea?In children with Hirschsprung's disease, nerves fail to form in all or part of the large intestine (colon). Waste from digestion cannot pass through the part of the colon lacking nerve tissue.
What is the pathophysiology of Hirschsprung's disease?Pathophysiology. Hischsprung's disease is where ganglionic cells of the myenteric and submucosal plexuses in the bowel aren't present proximally from the anus to a variable length along the large intestine.
What is the complication of Hirschsprung disease?The most common complication of Hirschsprung disease is Hirschsprung-associated enterocolitis, a condition in which the intestines become inflamed. This complication may occur before or after a child has surgery to treat Hirschsprung disease.
What mechanism is responsible for the development of Hirschsprung's disease?Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells.
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