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Hirschsprung's disease

 Hirschsprung's disease


Overview

Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel.

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

Surgery to bypass or remove the diseased part of the colon is the treatment.

Hirschsprung's disease

In children with Hirschsprung's disease, nerves fail to form in all or part of the large intestine (colon). Waste from digestion cannot pass through the part of the colon lacking nerve tissue. The normal colon swells with blocked stool.

Symptoms

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

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

Other signs and symptoms in newborns may include:

*Swollen belly

*Vomiting, including vomiting a green or brown substance

*Constipation or gas, which might make a newborn fussy

*Diarrhea

*Delayed passage of meconium — a newborn's first bowel movement

In older children, signs and symptoms can include:

*Swollen belly

*Chronic constipation

*Gas

*Failure to thrive

*Fatigue

Causes

It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation.

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

Risk factors

Factors that may increase the risk of Hirschsprung's disease include:

*Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological siblings could be at risk.

*Being male. Hirschsprung's disease is more common in males.

*Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.

Complications

Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis. Enterocolitis can be life-threatening and requires immediate treatment.

Diagnosis

Your child's doctor will perform an exam and ask questions about your child's bowel movements. He or she might recommend one or more of the following tests to diagnose or rule out Hirschsprung's disease:

*Removing a sample of colon tissue for testing (biopsy). This is the surest way to identify Hirschsprung's disease. A biopsy sample can be collected using a suction device, then examined under a microscope to determine whether nerve cells are missing.

*Abdominal X-ray using a contrast dye. Barium or another contrast dye is placed into the bowel through a special tube inserted in the rectum. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum.

The X-ray will often show a clear contrast between the narrow section of bowel without nerves and the normal but often swollen section of bowel behind it.

*Measuring control of the muscles around the rectum (anal manometry). A manometry test is typically done on older children and adults. The doctor inflates a balloon inside the rectum. The surrounding muscle should relax as a result. If it doesn't, Hirschsprung's disease could be the cause.

Treatment

For most people, Hirschsprung's disease is treated with surgery to bypass or remove the part of the colon that's lacking nerve cells. There are two ways this can be done: a pull-through surgery or an ostomy surgery.

Pull-through surgery

In this procedure, the lining of the diseased part of the colon is stripped away. Then, the normal section is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods, operating through the anus.

Ostomy surgery

In children who are very ill, surgery might be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is connected to an opening the surgeon creates in the child's abdomen. Stool then leaves the body through the opening into a bag that attaches to the end of the intestine that protrudes through the hole in the abdomen (stoma). This allows time for the lower part of the colon to heal.

Once the colon has had time to heal, a second procedure is done to close the stoma and connect the healthy portion of the intestine to the rectum or anus.

Results of surgery

After surgery, most children are able to pass stool through the anus.

Possible complications that may improve with time include:

*Diarrhea

*Constipation

*Leaking stool (fecal incontinence)

*Delays in toilet training

Children also continue to be at risk of developing a bowel infection (enterocolitis) after surgery, especially in the first year. Call the doctor immediately if any of the signs and symptoms of enterocolitis occur, such as:

*Bleeding from the rectum

*Diarrhea

*Fever

*Swollen abdomen

*Vomiting

TYPE OF DOCTOR AND DEPARTMENT: Pediatric Surgeon SPECIALIST CAN DIAGNOSE THIS DISEASE. 

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