Hirschsprung's Disease | Diagnosis

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How is Hirschsprung's disease diagnosed?

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:

  • Abdominal X-ray
  • Contrast enema. This procedure allows the doctor to examine the large intestine for abnormalities. A special dye that can be seen on X-rays is given via the rectum as an enema. This provides a clearer X-ray and gives your child’s doctor a better picture of what is going on.
  • Rectal biopsy. This gives us a sample of the rectum to examine under the microscope for the presence or absence of ganglion cells and the presence of hypertrophic nerve trunks (thickened, enlarged bundles of nerve fibers).

If your child still having problems following a pull-through procedure, the following tests may be done to determine what is happening:

  • Anorectal manometry. This non-invasive test measures rectal nerve reflexes, which are the key indicators of Hirschsprung’s disease. This is the best test to decide if your child needs to have a biopsy.
  • Abdominal X-ray. This test can show signs of obstruction, as well as swollen segments of the large and small intestine.
  • Barium enema. This procedure is performed to examine the large intestine for abnormalities. A fluid called barium (a chalky liquid used to coat the inside of the organs so that they will show up on an X-ray) is given via the rectum as an enema. This provides a clearer X-ray and gives your child’s doctor a better picture of what is going on.
  • Biopsy of the rectum or large intestine. Your child’s doctor will take a sample of the cells in your child’s rectum or large intestine and look at them under a microscope.
  • Colonic manometry. This test involves placing a catheter (thin plastic tube) into the colon to measure contractions.
  • Colonic transit studies. This procedure uses X-rays to monitor the movement of markers through the intestine and colon.

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.

Read more about GI motility testing at Boston Children’s Hospital.

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