Hirschsprung's Disease Symptoms and Treatments

Hirschsprung's disease is a congenital cause of intestinal blockage or obstruction. It's uncommon, occurring in about 1 in every 5,000 births and occurs more often in males than in females. Hirschsprung's disease is not curable, but is is treatable.

The life expectancy of someone with Hirschsprung's disease is reduced if the condition goes untreated. Surgical treatment generally results in excellent outcomes.

This article describes how you would know if your baby has Hirschsprung's disease. It covers symptoms, testing, treatments, and more.

What Is Hirschsprung's Disease?

Hirschsprung's disease was named for Harald Hirschsprung, a Danish pediatrician who first described the disorder in two children.

The disease is also called also called congenital aganglionic megacolon, meaning it's a disorder you're born with that causes nerve cells to be missing from the intestine.

It is caused by a lack of ganglion cells (nerve cells) at the end of the colon and rectum. Normal peristalsis requires these ganglion cells, so without them, you don't get the wave-like contractions of the intestines that move things along, causing them to become contracted and blocking the passage of stool out of the colon. This leads to constipation, which is the classic symptom of this disorder.

It is sometimes seen more often in children who have other inherited conditions. One of them is Down syndrome.

Hirschsprung's disease also shows up in some people who have type IV Waardenburg syndrome, also known as Waardenburg-Hirschsprung disease. Waardenburg syndrome refers likewise to a group of genetic conditions. It causes hearing loss and changes in pigmentation (coloring) of hair, skin, and eyes.

Not all babies born with Hirschsprung's have symptoms right away. Some may develop symptoms in later infancy or early childhood. About 50 percent of children with Hirschsprung's disease are diagnosed by age 1 year, and about 80 percent are diagnosed by age 7 years.

Symptoms of Hirschsprung's Disease

Newborn babies will usually pass their first bowel movement (the black tarry meconium) within the first twenty-four hours of life.

Most of the children with Hirschsprung's disease will have a delay in passing meconium. Some others will develop chronic constipation later in the first month of life. Either way, it can lead to intestinal obstruction, with many associated signs and symptoms, including:

• Abdominal distention
• Vomiting, which can be bilious
• Poor feeding
• Poor weight gain

Testing for Hirschsprung's Disease

Testing that can be done to diagnosis Hirschsprung's disease and includes:

• X-rays, which may show gaseous distention of the intestines and an absence of gas and stool in the rectum
• A barium enema, which may show a transition zone or an area between the normal colon and the constricted area that is affected by the lack of ganglion cells
• Anal manometry, a test that measures the pressure of the internal anal sphincter in the rectum

To confirm the diagnosis, a rectal biopsy is done, which should show the lack of ganglion cells in the end of the colon and rectum.

Testing for the suspicion of Hirschsprung's should usually start with a barium enema. If the barium enema is normal, then there is a very low chance of the child having Hirschsprung's. Children with an abnormal barium enema or who fail regular medical treatments for constipation should then go on to have a rectal biopsy.

Treatments for Hirschsprung's Disease

Treatment of Hirschsprung's disease is by surgical repair, which consists of first creating a colostomy and then later removing the part of the colon without the ganglion cells and connecting the healthy parts back together (pull-through operation).

It is sometimes possible to do a single-stage pull-through procedure or even to do the surgery laparoscopically.

The type of surgical repair will likely depend on your child's specific case. For example, some infants are too sick when they are first diagnosed to have one stage surgery.

A pediatric gastroenterologist and a pediatric surgeon can be helpful in diagnosing and treating your child with Hirschsprung's disease.

Summary

Hirschsprung's disease is an uncommon birth defect that affects nerve cells in the large intestine. It's primary symptom is intestinal obstruction, which usually occurs shortly after birth. This condition often shows up within the first year of life, but some children may not have symptoms until years later.

Talk to a pediatrician or other healthcare provider if your baby or child is showing signs of constipation that don't go away. Testing can rule out other more common causes and confirm a possible diagnosis. Treatment for Hirschsprung's disease usually involves surgery, which can save lives.