Hirschsprung's disease is a congenital disease of the intestine with a malformation of the nerve cells (ganglion cells). These cells may be missing in parts of the large intestine.
The absence of these nerves means that the bowel cannot function correctly. The bowel contracts like a cramp and is therefore constricted.
Defecation is impaired and the bowel cannot empty completely. This leads to constipation, which in turn can lead to inflammatory reactions. A bloated stomach or vomiting can also occur due to the lack of defecation.
The disease tends to occur in boys rather than girls. Newborns with Down syndrome have a higher risk of developing Hirschsprung's disease. The disease is also called megacolon congenitum. The name comes from the pediatrician Harald Hirschsprung.
In Hirschsprung's disease, the transportation of stool through the intestine does not work properly @ designua /AdobeStock
One of the visually striking symptoms is the baby's bloated stomach. It is also noticeable that meconium is not excreted until very late.
Meconium is the term used by doctors to describe the very first bowel movement in babies. This is not feces, but an accumulation of mucosal cells and skin cells.
The infant normally excretes the meconium within the first two days of life. If this is not the case, Hirschsprung's disease may be present.
However, there are also forms of the disease that doctors do not notice immediately. This is particularly the case if only relatively small parts of the intestine are affected.
Symptoms may only appear after breastfeeding and during dietary changes. Symptoms can also develop in adulthood.
These manifest themselves in long-term, chronic constipation.
The following symptoms may indicate Hirschsprung's disease:
- Bloating
- vomiting
- No or only partial excretion of the meconium
Hirschsprung's disease is potentially dangerous if the bowel does not empty. If the feces cause congestion, intestinal inflammation can develop within a short period of time. Intestinal obstruction is also possible.
The consequence can be sepsis (blood poisoning), which entails further dangers and symptoms. If the course of the disease is unfavorable, blood poisoning can be fatal.
During the examination, the attending physician first examines the child's abdomen and anus in detail. Swelling (abdominal distension) is often already visible.
He can also measure the pressure in the rectum. This procedure is called rectal manometry. This usually reveals the lack of relaxation and the cramp-like contraction of the bowel wall.
An imaging examination of the bowel, if necessary with a contrast medium, also provides information. In addition, a tissue sample (biopsy) can detect Hirschsprung's disease.
If the test is positive, the nerve cells are missing from the sample. The characteristic phenomenon is easily detectable in this way.
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 avoid complications. However, the timing of the operation depends not least on the general condition of the affected person.
Especially in newborns, such an operation is not without danger, so that doctors also work with bridging measures until then.
The options range from flushing out the bowel to creating an artificial bowel outlet (stoma).
When the operation is performed, doctors remove the parts of the bowel where the nerve cells are missing. This operation removes the constriction in the bowel so that a normal bowel movement is possible again. The two parts of the bowel are rejoined during the operation.
The important thing with this operation is that the sphincter muscle is not damaged and there is no bowel incontinence. However, it may be necessary to incise the sphincter muscle in such cases. Especially if only very short parts of the bowel are affected.
Various surgical methods are available depending on the clinical picture. The procedures can be performed either through the anus (transanal) or through the abdominal cavity (laparoscopic).
The prospects of a successful course of treatment are good if the disease is detected early and treated quickly. However, if only short sections of intestine are affected, the typical symptoms often only appear after some time.
Surgery is usually the treatment of choice. However, as with all surgical procedures, complications can occur. Although these rarely occur, you must nevertheless be aware of them.
