How Do Doctors Diagnose Hirschsprung’s Disease?

Children who have symptoms of Hirschsprung’s disease should see a pediatric gastroenterologist. At Orlando Health Arnold Palmer Hospital Center for Digestive Health and Nutrition, your child’s doctor will ask about their symptoms and when they began. The doctor also will do a physical exam and ask whether any close relatives have been diagnosed with Hirschsprung’s disease.

 

If your child’s symptoms and family health history indicate the possibility of Hirschsprung’s disease, your specialist will recommend one or more of the following tests:

 

  • Contrast enema. With this test, the doctor uses a flexible tube to fill your child’s colon with a chalky liquid called barium that shows up on X-rays. This allows the doctor to see any narrowed areas, obstructions or other changes in your child’s colon. Your child won’t need anesthesia for this test, which also is called a lower GI series.
  • Anorectal manometry. This test evaluates the reflexes in your child’s anus and rectum. The doctor will insert a narrow tube with a balloon at the end into your child’s rectum. When the balloon is inflated, muscles in the anus and rectum normally relax as they would during a bowel movement. If the muscles don’t relax, it could indicate Hirschsprung’s disease.
  • Rectal biopsy. This procedure is used to get a small piece of tissue from your child’s rectum to examine in the lab. The doctor will insert a small instrument into your child’s rectum to obtain the tissue sample. This test is not painful, though older children may need medicine to relax during the test.