Symptoms
The symptoms of Hirschsprung’s disease are already apparent in the newborn. The child is conspicuous by a strongly inflated abdomen. On the other hand, the first thin stool (technically called meconium) should be excreted within the first 24 to 48 hours.
In newborns with Hirschsprung’s disease, the first stool is given late or usually not at all. In some cases, this occurs because an intestinal obstruction (ileus) has already formed. Sometimes bilious vomiting can also occur. If the child is examined in the clinic as part of a rectal examination because of his or her symptoms, the doctor will notice an increased muscle tone of the sphincter muscle. There is a lot of stool in the abdomen, but the rectum is defecated.
Diagnostics
Based on the underlying symptomatology, various diagnostic procedures are set in motion. In the beginning, the abdomen is first examined by palpation and listening. During this process, it is possible to palpate partial stool resistances, which are caused by the stool being placed in front of the narrowed and affected intestinal area.
This is usually followed by an ultrasound examination of the abdomen, in which one can see how full the bowel is and whether there is any dilatation. This is usually followed by an X-ray of the abdomen. The final diagnosis is a biopsy of the mucous membrane of a section of the intestine, which can then be used to clearly determine which segments of the intestine are affected.
In addition, the rectum can also be stretched (rectal pressure measurement). Normally, the stretching of the rectum should be followed by a relaxation reflex of the inner sphincter muscle, but this does not occur in Hirschsprung’s disease. An x-ray usually confirms the suspicion of underlying Hirschsprung’s disease.
For the X-ray examination, contrast medium is introduced into the colon.In Hirschsprung’s disease one can characteristically observe a jump in the diameter of the intestine. The segment affected by the disease is narrowly defined. In front of this site, there is again a significantly dilated intestinal segment, as the stool accumulates in front of the subsequent narrowing.
This is known as a megacolon, which can be seen on X-rays as a key feature of Hirschsprung’s disease. Even though it is often possible to diagnose Hirschsprung’s disease by means of an X-ray examination, it does not make the subsequent mucosal biopsy superfluous, because the typical megacolon cannot always be actually seen in an X-ray image in the presence of the disease. This is especially true when only a short section of the intestine is affected.
The diagnosis of Hirschsprung’s disease is confirmed by a biopsy of the intestinal mucosa. The biopsy can show that ganglion cells are missing within the muscles of large intestine sections and thus determine which sections of the large intestine are exactly affected. This is important to know for the subsequent operation.
Furthermore, an increased concentration of acetylcholinesterase, an enzyme that breaks down an important messenger substance, acetylcholine, which is excessively active in the disease, can be detected. The biopsy is performed either under general anesthesia or under sedation (sedation). Here you can find information on this topic: biopsy.
