Hirschsprung's disease

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Hirschsprung's disease was discovered by Dr. Harald Hirschsprung in 1886. This disease is also known as "aganglionosis" precisely because of this feature: all patients with Hirschsprung's disease do not have lymph node cells in their rectum.

What is Hirschsprung's disease?

Hirschsprung's disease is a congenital disease in which there is an absence of lymph node cells in the rectum. Due to the absence of these cells, an obstruction of the large intestine occurs. These newborns may have a delay in the expulsion of meconium (the first deposition of the newborn) of more than 24 hours or may have an abnormal depositional habit with vomiting and distension of the abdomen.

Is Hirschsprung's disease the same in all patients?

No, it is not the same in all patients. Although congenital aganglionosis always affects the rectum, the final part of the large intestine can affect larger segments and even the entire intestine. For a better understanding, see the anatomical illustrations of a normal bowel and the different types of involvement of Hirschsprung's disease below.


Approximately 70% of patients with Hirschsprung have only affected the rectum. In the image we see how the final part of the large intestine, the rectum, is narrow. This narrow part is called the distal segment, and creates an obstruction of the rest of the intestine, which produces a dilation of the rest of the intestine (called the proximal segment). In this dilated part yes ganglion cells are, reason why it is a normogangliónico colon. 20% of patients with Hirschspurng will have this type of aganglionosis. It can be seen in the illustration that the aganglionic distal segment is longer and that it also produces an obstruction of the proximal intestine that is dilated in the image.

This type of form is the most uncommon (10% of Hirschsprung cases). The entire large intestine is narrow, because the entire colon is aganglionic, causing an obstruction and dilation of the small intestine (ili).


How do I know if my child has Hirschsprung's disease?

In general, we could say that children with this disease do not make bowel movements normally, usually from birth. A wide variety of problems can make the diagnosis neither easy nor early. Some patients may improve with the use of laxatives or suppositories and others need enemas to be able to evacuate. Moderate and severe cases may develop abdominal distension, fever, vomiting, and dehydration in the context of obstructive colitis or enterocolitis.

How is the diagnosis of Hirschsprung's disease confirmed?

At the moment, the diagnosis is realized by means of a biopsy of the mucosa of the rectum and is valued by an anatomopathologist, who determines the diagnosis.

How can we know the length of the colon that is sick?

Once we have confirmation of aganglionosis in the rectum, it is necessary to perform a radiological study called "Opaque Enema". This study must be performed by a pediatric radiologist who can determine where the "transition zone" is. This area is where the dilated intestine and small intestine meet.

Are the symptoms of Hirschsprung's disease similar to those of other diseases?

Yes, Hirschsprung's disease has many symptoms similar to those of constipation, food allergies, lactose intolerance, enterocolitis, intestinal infections among others.


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