Pediatric Hirschsprung's Disease
What is Hirschsprung's disease?
Children with Hirschsprung's disease are born with missing nerve cells at the end of their bowels. Hirschsprung's disease is a rare illness in which the rectum and sometimes the colon cannot function normally, resulting in serious constipation or obstruction of the bowel.
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 types of Hirschsprung's disease?
There are multiple types of Hirschsprung's disease classifications, including:
- Long-segment Hirschsprung's disease – nerve cells are missing from most or all of the large intestine and could be missing from the last segment of the small intestine.
- Short-segment Hirschsprung's disease – nerve cells are missing from the last segment of the large intestine.
- Entire large and small intestine – although rare, in some children the nerve cells are missing in the entire large and small intestine.
What are the symptoms of Hirschsprung's disease?
Symptoms of Hirschsprung's disease in infants* (up to 1 year)
- Difficulty with bowel movements
- Failure to pass meconium (stool) after birth
- Failure to pass first stool with 48 hours of birth
- Infrequent, but explosive, stools
- Poor feeding
- Poor weight gain
- Watery diarrhea
Symptoms in children older than 1 year
- Fecal impaction
- Failure to respond to oral constipation medicines
- Slow growth
- Swelling of belly
- Unexplained fever
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 treated?
Children suspected of having the disease should get immediate medical treatment, including:
- Antibiotic therapy if enterocolitis develops
- IV fluids
- No food by mouth
- Relieving pressure in the intestines and stomach by using enemas
Some cases may require surgery to remove the part of the intestine that is affected, and then reattach the healthy parts. Most of the symptoms improve or go away following surgery.