Hirschsprung Disease Symptoms and Diagnosis

Hirschsprung Disease: Symptoms and Diagnosis


Most children with Hirschsprung disease have symptoms within the first few days and weeks of life. Symptoms depend on how much of the intestine is affected. Children with a very short segment of involvement may not show symptoms for several months or even years, while those with longer lengths of abnormal intestine become sick very quickly.

The most common symptoms in infants include:

  • The absence of a bowel movement in the first 48 hours of life
  • Distension (bloating) of the abdomen
  • Vomiting (the color of bile, which can be dark green to yellow brown)
  • Fever
  • Diarrhea

Older children may have these symptoms:

  • Sepsis (a severe infection)
  • Severe Constipation
  • Watery stools
  • Loss of appetite
  • Delayed growth (failure to thrive)


While most children with Hirschprung disease are diagnosed during infancy, some children may not be diagnosed until adolescence or rarely, young adulthood. Doctors perform several tests in order to confirm a diagnosis, and different studies may be used depending on your child’s age. Most of these tests are not painful, and do not require sedation or an overnight hospital stay.

An abdominal X-ray is used to identify any intestinal blockage.

  • A contrast enema  is a special type of X-ray of the colon that shows the doctor exactly what part of the colon is diseased. This X-ray also helps your child’s surgeon plan the surgery.
  • A rectal biopsy is a test that takes a small bit of tissue from your child’s rectum (the lowest part of the large intestine) so doctors can look at it under a microscope. The biopsy lets the doctor examine nerve cells in the tissue sample and helps establish a diagnosis of Hirschprung disease. If this biopsy is inconclusive (sometimes the sample is too small), then a second biopsy will be done in an operating room.
  • Anorectal manometry uses a small balloon to record pressure changes within the colon and rectum, and determines if the bowel is functioning normally. This procedure is only used in older children.

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