Chromosomal and Genetic Conditions

Hirschsprung Disease Symptoms and Diagnosis

Symptoms of Hirschsprung Disease

If your baby has Hirschsprung disease, they may have one or more of these symptoms just after birth:

  • No stool passed within the first day or two after birth
  • Swollen belly (abdomen) from gas
  • Vomiting, which may be yellow or greenish

Babies with an infection in the large intestine (enterocolitis) may become very ill. They may be very sleepy or not very active, and may have some or all of these symptoms:

  • Fever
  • Swollen belly
  • Watery or bloody diarrhea

If your baby has been diagnosed with Hirschsprung disease and has any of these symptoms, get medical help right away.

Older babies and children with Hirschsprung disease may have problems with constipation that do not improve much after using routine treatments. Soft or loose stool may leak around hard stool that is trapped in the colon, soiling your child’s diaper or underwear (fecal incontinence). It may seem like diarrhea, but it has more to do with being constipated.

In addition, older children may have:

  • Diarrhea
  • A lack of red blood cells, called anemia, because blood is lost in their stool
  • Slower physical growth and development than usual

Hirschsprung Disease Diagnosis

If your child has symptoms of Hirschsprung disease, the doctor will take X-rays to see what the intestines look like. Your child may need:

Doctors may need to take a small sample of tissue from the rectum to tell for sure if your child has Hirschsprung disease. This is called a rectal biopsy. They look at the tissue sample under a microscope to see if it has ganglion cells.

Sometimes doctors also use a test called anorectal manometry. During this test, the doctor inflates a small balloon inside the rectum that senses how the nerves and muscles work.