Hirschsprung's disease

How is Hirschsprung's disease diagnosed?

Your child’s physician will do an exam and then some or all of the following tests:

• Abdominal x-ray — This can show a lack of stool in your child’s large intestine or near the anus as well swollen segments of the large and small intestine.
• Barium enema — A procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray) is given into the rectum as an enema.
  • This results in a clearer x-ray and gives your child’s doctor a better picture of what’s going on.
• Anorectal manometry — A test that measures nerve reflexes. Since it’s the nerves that are affected in Hirschsprung's disease, this test will alert your child’s doctor to the possible presence of the disease.
• Biopsy of the rectum or large intestine — Your child’s doctor takes a sample of the cells in your child’s rectum or large intestine and looks at them under a microscope.