Hirschsprung's disease

What is Hirschsprung's disease?

Hirschsprung's disease occurs while a baby is still developing in the mother’s womb. In a healthy developing child, the nerve cells grow from the beginning to the end of the bowel and help the colon to relax and pass stool. With Hirschsprung's disease, the child’s nerve cells do not grow to the end of the bowel.

In most cases, the nerve cells are missing from areas in the child’s rectum and sigmoid colon (part of the colon that is closest to the rectum and anus). Once the stool reaches the area where the nerve cells are missing, the blockage forms and the child develops symptoms.

What are the different types of Hirschsprung's disease?

• Short-segment Hirschsprung's disease - nerve cells are missing from the last segment of the large intestine.

• Long-segment Hirschsprung’s disease – nerve cells are missing from most of the large intestine.

• Total colonic Hirschsprung’s disease – nerve cells are missing from all of the large intestine.

• Small intestinal Hirschsprung’s disease – although rare, in some children the nerve cells are missing from the entire large intestine and through portions of the small intestine.

What are the signs and symptoms of Hirschsprung's disease?

Symptoms in infants (up to 1 year) can include:

• Difficulty with bowel movements

• Failure to pass meconium (stool) after birth

• Passing first stool 48 hours or longer after birth

• Infrequent, but explosive, stools

• Poor feeding

• Vomiting

• Watery diarrhea

• Abdominal distention or bloating

Symptoms in children older than 1 year can include:

• Constipation

• Fecal impaction

• Failure to respond to oral constipation medicines

• Slow growth

• Swelling of belly

• Unexplained fever

• Vomiting

Hirschsprung’s disease affects five times as many male babies as it does female babies. In a few cases, a dangerous infection called enterocolitis can occur. This infection damages the lining of the intestines, which is a serious issue. In extreme cases, the intestine may also rupture or burst.

How is Hirschsprung's disease diagnosed?

In order to diagnose the disorder, a biopsy of the rectal tissue is performed. Learn more about pediatric rectal suction biopsy.

How is Hirschsprung's disease treated?

Rectal irrigations to relieve obstruction of stool in the intestines, including:

• Antibiotic therapy if enterocolitis develops

• IV fluids

• No food by mouth

Hirschsprung disease requires surgery called a “pull-through”. The condition can involve varying lengths of large intestine beginning at the rectum. Once the involved intestine is identified, this portion is removed and the uninvolved intestine is then used to surgically create a new rectum for the child. 

This operation, referred to as a laparoscopic pull-through surgery can be done as either a single or two-stage operation.

• The two-stage operation involves performing a colostomy which allows the stool to be diverted to the abdominal wall and emptied into a bag. The pull-through is then done at a second operation after the child has resolved other concurrent issues that may complicate their recovery. 

• In the single-stage procedure, the pull-through is performed without a colostomy and is reserved for selected infants or children felt to be candidates for the more complex procedure.