There are certain conditions that are imposed on us, even against our will. When we are born with some diseases, for example, we don’t want them to stay with us, but when one of our children is born with a disease, we intensely wish for that problem to be solved as quickly as possible. Unfortunately, some of these issues cannot be resolved, but most of them can be alleviated. This is the case with congenital megacolon, a condition of the large intestine that a baby is born with. And despite its severity, there are ways to completely eliminate it. Let’s discuss this condition more deeply and what actions need to be taken regarding it.

What is Congenital Megacolon?

Also called Hirschsprung’s disease, congenital megacolon is a condition present at birth, where the function of the baby’s large intestine is compromised due to the absence of nerve fibers. This happens because of a dilation in the intestine, hence the disease’s name: Mega (large), Colon (large intestine). As a consequence, there is a build-up of stool, which causes even greater dilation of the organ. Although it occurs mostly in babies, the disease can also manifest in older children or even adolescents. The disease is named Hirschsprung in honor of Danish physician Harald Hirschsprung, who was the first to describe the case in 1886 in two children with the problem. However, it wasn’t until after the 1940s that the first effective treatments began to appear.

What Are the Causes of Congenital Megacolon?

Congenital megacolon is a very rare disease, occurring in about 1 in every 5,000 babies. This condition may be related to genetic factors, but this is not always the determining factor. Of course, family history and certain genetic alterations such as Down syndrome, for example, can indeed contribute to a baby being born with congenital megacolon, but in many cases, the genetic defect affects only this part of the intestine.

Symptoms of Congenital Megacolon

The first signs that a baby might have congenital megacolon are when they do not poop within the first 48 hours of life. During this period, the baby is kept under observation until the disease is either confirmed or ruled out. Green vomit, stools that only come out with medical procedures (and sometimes with blood) are also symptoms indicating congenital megacolon.

How Is Congenital Megacolon Diagnosed?

By observing all symptoms and performing physical exams on the baby, doctors will subject them to some types of tests to properly diagnose the disease. These tests are:

  • Biopsy
  • Manometry
  • Barium Enema

Let’s talk about each of these a bit more so you can understand how they work and how they can indicate the disease.

Biopsy

This is a very common exam in many situations and is also the one that can most accurately diagnose congenital megacolon. It consists of removing a small piece of the large intestine for analysis under a microscope. If the baby does not have ganglion cells, it means they have congenital megacolon.

Manometry

This is a test done to measure the pressure exerted by the muscles of the anus and rectum. It basically consists of inserting a balloon into the baby’s anus so the doctor can take these measurements.

Barium Enema

This is an X-ray exam, which involves inserting a kind of liquid into the colon, through the anus, so the doctor can analyze the baby’s abdomen. Other exams, such as a simple abdominal X-ray, may also be requested by the doctor for a more precise analysis.

Treatment of Congenital Megacolon

Treatment for congenital megacolon is done through surgery. Initially, a small colostomy surgery is performed, which will allow the baby’s stools to come out through a small bag attached to their belly. When the baby is older and their body a little more developed, at about 10 or 11 months, a definitive surgery is performed with removal of part of the intestine and reconstruction of the intestinal tract. If the baby is healthy and the colon is not filled with stool, it’s possible for the definitive surgery to be done without the need for the temporary one, but this is rare.

Possible Complications

If left untreated, congenital megacolon can cause complications such as perforation or obstruction of the intestine, which may lead to a series of inflammations in other organs, as well as the risk of toxic situations that can result in death. Because it is so dangerous, this is a disease that needs to be monitored and treated as soon as possible. There are many conditions present from birth, and inevitably they will cause concern for parents. It’s common to become scared in these situations, but it’s also important to understand that there is a way out, that there is treatment, and that everything can be done calmly. Visiting the necessary doctors and strictly following the steps for treatment is the best way to ensure that congenital megacolon does not become a nightmare in your life. No matter how severe the case may be, it’s essential to always pay attention, and this way, even the most severe cases can improve. See Also: What Is the Neural Tube and How Does It Form in the Baby? Photo: rawpixel