Hirschsprung's Disease - Specialists and Information

Hirschsprung’s disease is a congenital disorder of the intestine characterized by a malformation of nerve cells (ganglion cells). These cells may be missing in parts of the large intestine. 

Because of the absence of these nerves, bowel function is impaired. The bowel contracts spasmodically and becomes constricted. 

Bowel movements are disrupted, and the bowel cannot empty completely. This leads to constipation, which in turn can cause inflammatory reactions. A bloated abdomen or vomiting may also occur due to the inability to pass stool.

The disease tends to occur more frequently in boys than in girls. Newborns with Down syndrome have a higher risk of developing Hirschsprung’s disease. The disease is also known as congenital megacolon. The name comes from the pediatrician Harald Hirschsprung.

In Hirschsprung’s disease, the passage of stool through the intestine does not function properly @ designua /AdobeStock

One of the visually noticeable symptoms is a distended abdomen in infants. In addition, the passage of meconium is noticeably delayed. 

Doctors refer to meconium as the very first bowel movement in infants. This is not feces, but rather an accumulation of mucosal and skin cells. 

Normally, an infant passes meconium within the first two days of life. If this does not occur, Hirschsprung’s disease may be present.

However, there are also forms of the disease that doctors do not immediately detect. This is especially the case when only relatively small portions of the intestine are affected. 

Symptoms may not appear until after breastfeeding has ended and during a change in diet. Symptoms can also develop in adulthood. 

These manifest as long-term, chronic constipation.

The following symptoms may indicate Hirschsprung’s disease:

• Bloated abdomen
• Vomiting
• No or only partial passage of meconium

Hirschsprung’s disease can be dangerous if the bowel does not empty. If stool becomes trapped, bowel inflammation can develop quickly. An intestinal obstruction is also possible. 

This can lead to sepsis (blood poisoning), which brings with it further risks and symptoms. In severe cases, sepsis can be fatal.

During the examination, the treating physician first carefully palpates the child’s abdomen and anus. Swelling (bloating) is often already visible. 

In addition, the doctor may perform a pressure measurement in the rectum. This procedure is called rectal manometry. It typically reveals a lack of relaxation and spasmodic contractions of the intestinal wall.

An imaging examination of the intestine, possibly using a contrast agent, also provides clues. Furthermore, a tissue sample (biopsy) can confirm Hirschsprung’s disease. 

If the test is positive, nerve cells are absent in the sample. This characteristic finding is thus easily detectable.

A distended or swollen abdomen can be a sign of Hirschsprung’s disease @ praisaeng /AdobeStock

Surgery for young patients should generally be performed as soon as possible to prevent complications. However, the timing of the surgery depends in no small part on the patient’s overall condition. 

Such a procedure is not without risk, especially for newborns, so doctors often use temporary measures in the meantime. 

Options range from flushing the bowel to creating an artificial bowel opening (stoma).

When the surgery is performed, doctors remove the sections of the intestine where nerve cells are missing. Through this procedure, they correct the narrowing in the intestine, allowing for normal bowel movements again. During the surgery, they reconnect the two sections of the intestine.

It is important during this surgery that the sphincter muscle remains intact and that bowel incontinence does not occur. However, it may be necessary to make an incision in the sphincter muscle in such cases, especially when only very short sections of the intestine are affected. 

Depending on the clinical presentation, various surgical methods are available. The procedures can be performed either through the anus (transanal) or through the abdominal cavity (laparoscopically).

The prospects for a successful outcome are good with early detection and prompt treatment. However, if only short segments of the intestine are affected, the typical symptoms often do not appear until some time has passed. 

Surgery is generally considered the treatment of choice. However, as with all surgical procedures, complications can occur. Although these are rare, you should still be aware of them.