Hirschsprung's disease

Hirschsprung (HIRSH-sproong) disease is a condition in which nerve cells are missing in a baby's large intestine, resulting in bowel blockage. These nerve cells help move contents through the colon. Without them, the contents can back up and cause problems with passing stool. Hirschsprung disease is present at birth.

A newborn who has Hirschsprung disease usually can't have a bowel movement in the days after birth. In mild cases, there might not be symptoms until later in childhood. Rarely, Hirschsprung disease is first diagnosed in adults.

The treatment is surgery to bypass or remove the affected part of the colon.

Symptoms of Hirschsprung disease depend on how bad the condition is. Usually symptoms start shortly after birth, but sometimes don't show up until later in life.

Typically, the most obvious symptom is a newborn's failure to have a bowel movement within 48 hours after birth.

Other symptoms in newborns may include:

• Constipation or gas, which might make a newborn fussy.
• Diarrhea.
• Failure to thrive.
• Stomach pain.
• Swollen belly.
• Vomiting, including a green or brown substance.

In older children, symptoms can include:

• Long-lasting constipation.
• Gas.
• Failure to gain weight.
• Fatigue.
• Stomach pain.
• Swollen belly.

The cause of Hirschsprung disease is unclear. It sometimes runs in families. In some cases, it might be associated with an altered gene.

Hirschsprung disease occurs when nerve cells in the colon don't develop all the way. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

Factors that may increase the risk of Hirschsprung disease include:

• Having a sibling who has Hirschsprung disease. Hirschsprung disease can be inherited, meaning it's passed down through families. If you have one child who has the condition, future children could be at risk.
• Being male. Hirschsprung disease is more common in males.
• Having other inherited conditions. Hirschsprung disease can be related to certain inherited conditions, such as Down syndrome. It also can be related to irregularities present at birth, such as congenital heart disease.

Children who have Hirschsprung disease could develop enterocolitis, a serious intestinal infection. Enterocolitis can be life-threatening and should be treated right away.