Hirschsprung Disease

Hirschsprung disease is a rare disease that a baby is born with. It occurs when some or all the nerves in the large intestine (colon) are missing. These nerves help move stool through the colon and out of the body. When they are missing, stool can get backed up inside the colon. This can cause the colon to become blocked and can lead to infection, swelling and pain.

The symptoms of Hirschsprung disease can vary depending on how severe the condition is. Babies with severe disease usually have symptoms shortly after birth. These may include:

• No bowel movement in the first 48 hours after birth
• Green or brown vomit
• A swollen belly

Babies with less severe disease may have symptoms that develop over time:

• Constipation
• A swollen belly
• Delayed growth
• Loss of appetite

Hirschsprung disease develops during pregnancy. Experts don’t know exactly what causes it.

Hirschsprung disease is usually treated with a surgery called a pull-through procedure. In this surgery, the surgeon removes the part of the colon that is missing nerve cells. If possible, they connect the healthy part to the anal opening. At Connecticut Children’s, our surgeons most often perform this surgery in one step using minimally invasive (laparoscopic) techniques.

Some children need to have the surgery in two stages. If this is this case, the child first has ostomy surgery. During this surgery, the surgeon removes the diseased part of the colon. Then they attach the healthy end of the colon to an opening made in the belly called a stoma. The stool passes through the stoma and into a bag the child wears outside the body. The bag needs to be emptied several times a day.

Once the colon has healed, the surgeon connects it to the anus during a second surgery and sews the stoma closed.

Doctors at Connecticut Children’s can determine the right plan if your child requires treatment for Hirschsprung disease.