Hirschsprun’g disease: What it is, symptoms and treatment

There are children who, a few hours after birth, have problems to evacuate the faeces of the body, so it is necessary to know the origin and causes that can produce this alteration.

Newborns who have it do not have the ability to evacuate due to a problem of congenital origin caused by a condition at the level of nerve cells found in the intestines. The only way to realize the existence of this alteration is from birth, it is at that time when the signs and symptoms characteristic of this disease are evident.

What is Hirschsprung’s disease

It is a congenital disease presented by newborn babies consisting of the alteration of the large intestine product of the lack of neurons at the level of the muscles of the baby’s colon, which causes the inability to evacuate. This occurs at the moment when some nerve cells that are usually found in the intestine do not form correctly during the development of the fetus during pregnancy.

Physiologically, as food is being digested, they are displaced by the muscles through the intestines, a movement known as peristalsis. There are nerve cells that are present in the walls of the intestines and, when eating, these cells receive signals from the brain so that the intestinal muscles push the food.

This disease is caused by the lack of such cells in a portion of the intestine, which interrupts the nerve transmission of the brain and prevents peristaltic movement at the intestinal level.

For this reason the stools cannot be displaced, this results in a partial or total obstruction. The alterations will occur in children who suffer from this disease depending on the portion of the intestine where the normal nerve cells are located.

Hirschsprung disease symptoms

The symptoms that occur in Hirschsprung’s disease (HIRSH-sproongz) depend on the severity of the disorder and usually appear shortly after birth. The most evident in newborns is the inability to evacuate, this occurs within 48 hours after birth. In addition to this it can also be presented in the newborn:

• Increased volume in the abdomen.
• Vomiting green or brown.
• Diarrhea or constipation accompanied by gas that can make the baby very irritable.

In older children it can be presented:

• Increase in volume at the abdominal level.
• The presence of gases.
• Constipation.
• Fatigue.
• Growth disorder.

In cases where the symptoms of this disease go unnoticed can advance even into adolescence or adulthood altering the ability of the body to absorb the nutrients you need, because of this can delay growth in older children.

Hirschsprung disease causes

The medical specialists in this matter are not clear why some children suffer from this disease, they simply know that it is hereditary and more frequent in males than in females.

The causes capable of triggering this disease are still unknown; it is thought that in many cases it is related to a genetic mutation. What is certain is that when the nerve cells of the colon are not formed completely, the disease occurs.

Diagnosis of Hirschsprung’s disease

The diagnosis must be made in the shortest possible time through the medical examination and the clinical history in addition to specialized studies to evaluate the infant who presents the symptoms; most patients are diagnosed easily in the early stages of breastfeeding. Among the tests that are usually performed to diagnose this disorder is:

• Simple X-ray of the abdomen: This study shows the presence of stool at the level of the intestine and the presence of intestinal obstruction.
• Barium enema: This study is performed with the purpose of reviewing the large intestine to detect any alteration; with this study a substance called barium is introduced through the rectum. Its consistency is similar to plaster, it is used to coat the inside of organs to appear on an x-ray.
• Rectal aspiration biopsy: This study may report the absence of ganglion cells.
• Rectal manometry: This test can indicate the relaxation of the internal anal sphincter, in this way an abnormal innervation is established. The definitive diagnosis is made by full thickness biopsy of the rectum or colon to detect the extension of the disease, then surgical treatment must be planned.

Hirschsprung disease treatment

The treatment for Hirschsprung’s disease should be indicated by the doctor and will normally be determined by the following factors:

• According to the extent of the problem.
• It will depend on the patient’s age, general condition, as well as the child’s medical history.
• Of the studies carried out to reach the diagnosis.

The solution to this alteration caused by this disease is surgical due to the intestinal obstruction presented by the patient. In this case, the surgeon is responsible for removing the part of the colon and rectum that does not contain nerve cells. Subsequently, it will connect directly with the anus.

At other times a colostomy should be performed in order to remove feces from your body; it consists of connecting the upper end of the intestine with an opening at the level of the abdomen through which the stool leaves the body. This procedure can be temporary or permanent depending on the degree of injury. After a while, the free intestinal transit can be restored and closed.

Children who undergo these procedures can present long-term problems such as digestion problems, nutrient absorption, alteration of their development and growth.

Postoperative and prognosis

After surgery, the child may notice discomfort for some time. That is why it is important to give a diet rich in fiber to avoid complications. It is also essential that you drink plenty of water, as there is a risk of dehydration.

Sometimes the doctor prescribes some laxatives to relieve constipation. The use of these medications should always be prescribed, since self-medication could cause serious complications. If the symptoms persist or worsen, it is necessary to go to the hospital immediately. This could be a symptom of enterocolitis or inflammation of the intestines.

In general, most children undergoing surgery heal and can lead a completely normal life, without further complications.