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What Is Hirschsprung’s Disease?


Wednesday, September 30th, 2015

Every new parent hopes for a healthy baby. But some infants are born with challenges, problems that are known as congenital conditions. Hirschsprung’s disease, also known as aganglionosis, is one such congenital condition. A disease of the large intestine, Hirschsprung’s disease can cause constipation and intestinal blockages. Most cases of Hirschsprung’s disease are identified soon after birth, although some children may not be diagnosed with it until they are older. The condition is about five times more common in boys than in girls and tends to occur in babies with other congenital disorders, such as Down syndrome.

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A Gut Feeling?

Normally, nerves located between the muscles in the gut trigger contractions called peristalsis, which move digested food and liquid through the intestines. People with Hirschsprung’s disease are born without these cells (known as ganglia) in some parts of the large intestine, so they are unable to push waste through these areas. As a result, contents of the intestine back up, causing a blockage.

Hirschsprung’s Disease Symptoms and Complications

In infants, Hirschsprung’s disease can cause:

  • Failure to pass a first stool within 48 hours of birth
  • Infrequent but explosive stools
  • Vomiting
  • Poor feeding
  • Poor growth

Symptoms in older children can include:

  • Constipation
  • Swollen abdomen
  • Gas
  • Fatigue
  • Malnutrition
  • Slow growth

Left untreated, Hirschsprung’s disease can sometimes lead to inflammation, infection, or even rupture of the intestines.

Hirschsprung’s Disease Treatment for Young Patients

Most cases of Hirschsprung’s disease are diagnosed soon after a baby is born when clinicians and parents notice that the infant hasn’t passed a first bowel movement or meconium, the dark-green substance that forms the first stool that is passed following birth. In older babies and children, physicians may use a variety of tests to diagnose Hirschsprung’s disease. These include:

  • Physical exam
  • Rectal biopsy
  • Contrast enema

Hirschsprung’s disease surgery

Doctors always recommend surgery to treat Hirschsprung’s disease by taking out the sections of the intestines that lack ganglia. This involves surgically removing abnormal portions of the colon and rectum and then pulling the remaining healthy part of the colon down to the anus, where it is reattached. It may sound complicated, but this surgery is usually performed through the anus or with a laparoscope (thin flexible tube) and is minimally invasive.

Symptoms of Hirschsprung’s disease typically clear up after surgery, although a small number of children may still experience constipation, colitis, or fecal incontinence (loss of bowel control) on occasion. Your child’s physician can tell you more about the condition and its treatment.

To learn more about Hirschsprung’s disease and its treatment options, visit the Colorectal Center at Children’s Hospital of Pittsburgh of UPMC website.

digestive disorders

Digestive Disorders

The Digestive Disorders Center (DDC) is a convenient point of access to the full range of digestive health care services available at UPMC. Our team has expertise in treatments for inflammatory bowel disease, including Crohn’s disease and ulcerative colitis, as well as swallowing disorders, gastrointestinal cancer, and liver, pancreatic, and biliary diseases. Read More