Signs & Symptoms Of Hirschsprung’s Disease: Causes & Treatment

Hirschsprung’s disease is a congenital defect which affects the colon and causes trouble passing stool. The condition is present at birth and develops due to missing nerve cells in the muscles of the fetal colon.

Signs and symptoms tend to vary depending upon the severity of the disorder. Generally symptoms manifest soon after birth, however, at times, there may be no symptoms at all till adulthood.

Symptoms in newborn:

Characteristically, the most evident indication of the condition is a newborn’s inability to have a bowel movement within a period of 48 hours post birth.

Other symptoms include:

  • Swollen abdomen
  • Vomiting
  • Constipation
  • Extreme flatulence
  • Diarrhea

In older children and adults, the symptoms include:

  • Swollen and bloated abdomen
  • Chronic constipation
  • Excessive flatulence
  • Failure to thrive
  • Exhaustion and lassitude
  • Frequent bouts of enterocolitis, which needs anti-biotics and hospitalization to deal with it.

Causes And Risk Factors Of Hirschsprung Disease

The precise cause of Hirschsprung’s disease is still quite ambiguous. It is known to run in families and in some cases, it has been linked to genetic mutation.

The condition develops when the nerve cells in the colon fail to form entirely. Nerves in the colon direct muscular contractions which move food through the bowel.

In the absence of these contractions, the feces stay in the large intestine.

Associated Risk factors

Factors which could increase the risk of Hirschsprung’s disease are:

  • Being male
  • Having a sibling who has Hirschsprung’s disease.
  • Having other inherited conditions, such as Down syndrome and congenital heart disease.

Diagnosis And Treatment Of Hirschsprung Disease

Investigations done to verify the diagnosis are:

  • X ray of the abdomen using a contrast dye: Barium is inserted in to the bowel via the rectum. Barium fills and coats the colon, creating a clear silhouette. The X ray demonstrates a distinction between the narrow segment devoid of nerves and the normal segment with the swollen portion of bowel posterior to it.
  • Assessing the control of the muscles around the rectum: A manometry investigation is carried out in older children and adults. Your physician will inflate a balloon inside the rectum. The neighboring muscle ought to relax as a result. In case it does not, then Hirschsprung’s disease is the likely cause. This is the most definite way of making a diagnosis.

To manage the case successfully, your health care provider will advise surgery. Surgery to bypass that section of the large intestine which is devoid of nerve cells helps treat the disease. The membrane of the afflicted portion is removed, and the normal colon is pulled through the colon from the inside and connected to the anus. This is done laproscopically.

In individuals who are very ill, surgery is conducted in 2 phases.

Initially, the abnormal segment of the colon is excised and the healthy section is attached to a gap which the surgeon makes in the abdomen. Feces are eliminated via this opening into a bag which connects to the end of the colon which projects through the opening in the abdomen. This allows time for the lower segment of the colon to heal. Later, your surgeon will close the opening and attach the healthy segment of the colon to the rectum or anus.