Hirschsprung's Disease

​​Hirschsprung's disease is a condition that affects the large intestine of newborns. More specifically, the nerve cells in the wall of a baby's intestine don't develop properly which then delays stool from moving through the intestines. Eventually, the baby becomes constipated, or an infection called enterocolitis can occur.​

Most often, the condition appears shortly after childbirth, but on rare occasions, it will develop later in life. The first symptom is a newborn failing to have a bowel movement within 48 hours.

Other signs in a newborn include:

• Abdominal bloating/swelling
• Vomiting
• Fever
• Constipation that grows worse
  

In older children, the symptoms include:

• Abdominal bloating/swelling
• Constipation that grows worse
• Gas
• Small, water stools
• Failure to thrive

There is some evidence that Hirschsprung's disease may be genetic; if a parent has the disease, the child is more likely to have it. The condition may also be caused by a genetic mutation. The disease is rare, occurring in about 1 in 5,000 births.

Diagnosing Hirschsprung's Disease

A variety of tests can help diagnose Hirschsprung's disease, such as:

• X-ray
• A contrast enema with an x-ray
• Manometry, which tests the refluxes in the anus and rectum
• Rectal biopsy
  

To be fully certain the problem is Hirschsprung's disease, more tests and/or biopsies may be needed.

Treatment Options

Surgery is required to open the intestine and recover bowel function, but the preferred method is a minimally invasive technique which involves removing the diseased portion of the intestine and connecting the healthy portion to the anus. Children can continue to have problems after surgery, which is why it's important to stay in touch with your doctor. Possible problems include:

• Constipation that doesn't respond to laxatives, dietary or lifestyle changes
• Diarrhea
• Stool accidents
• A very bloated abdomen
• Pain, vomiting or unable to tolerate food
  

Removing a large section of the intestine may mean a child has long-term digestive issues. They are at risk for a condition called Hirschsprung's enterocolitis, an inflammation of the lining of the intestinal wall that can be life-threatening if not treated immediately.

Symptoms of Hirschsprung's enterocolitis include:

• Explosive diarrhea
• Unusually foul-smelling diarrhea
• Gray or pale-colored stool
• Vomiting
• Swollen abdomen
• Fever