Hirschsprung's disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at July 24, 2016
StartHirschsprung's disease

Hirschsprung’s disease or HD is a condition affecting the colon that causes constipation and intestinal obstruction. It occurs when part of the muscles of the colon are missing neurons or nerve cells. Hirschsprung's disease is a congenital disorder or birth defect which is usually diagnosed in babies, but it can be diagnosed in older children.


Definition & Facts

Hirschsprung’s disease is a disorder of the digestive system in which the nerves in the muscle layers do not form in all areas of the large intestine. The missing nerves in the colon cause poor muscle movement. This results in trouble passing waste, which can cause discomfort, constipation, and more serious conditions.

It is present when a baby is born and is generally considered to be a genetic disorder. The vast majority of cases are diagnosed prior to the child reaching the age of five. Several genetic mutations and chromosomal abnormalities are suggested to be linked to the syndrome although the exact cause is not known. It is a rare condition, and according to the National Institutes of Health has a mortality rate of 1% to 10%.

Symptoms & Complaints

Symptoms of Hirschsprung’s are usually present at birth. The most common sign of the condition is a newborn not having a bowel movement within 48 hours of birth. This can indicate difficulty passing feces and inflammation or blockage, which are common results of the illness. Newborns and babies can present other symptoms as well. Common symptoms in Newborns:

Older children may also be diagnosed with the disease. They can have many of the same symptoms as newborns, but it may present in other ways. In addition to the above symptoms, common symptoms in older children include:

Another complaint often associated with Hirschsprung's disease is enterocolitis. This condition, also known as coloenteritis, is inflammation in the colon or intestines. It caused by stool backing up past the immobile section of the colon. It can become a serious infection requiring medical treatment. 


Exactly what causes Hirschsprung’s disease to occur is not known. Common theories indicate that defects and interactions in several genes may contribute to the disorder. It is also generally believed that these defects occurs within the first 12 weeks of pregnancy.

Although the root cause is not known, the way the condition occurs is. The disease happens when the bundles of nerve cells or ganglia that form in the colon do not finish forming along the entire length. The process of ganglia formation occurs from the top of the colon and works its way down to the rectum at the bottom. When Hirschsprung’s occurs, the ganglia stop forming too soon and do not reach the rectum.

Where the ganglia stop varies and may affect only a small segment or could impact the entire colon. It is even possible in severe cases for the issue to extend into the small intestine. In addition, certain risk factors can also point to the disease occurring. They include:

  • One or more siblings with the condition
  • Other family members with the condition
  • Being male – it is more common in males than females
  • Presence of other inherited disorders – about one-third of those diagnosed have other conditions like cardiovascular disease or Down syndrome.

Diagnosis & Testing

When a newborn fails to pass stool in the first 48 hours after birth or other symptoms indicate the potential for Hirschsprung’s disease, doctors will request a test to confirm the condition. The testing may involve measuring muscle response, reviewing contrast imaging, laboratory testing, or a combination of the three. The results of the tests will help determine if sections of the intestine are missing the nerves that prompt the medical diagnosis of HD.

A manometry test (anorectal manometry), which tests the muscle response of the rectum, is a common method that aids in diagnosing the disorder. Manometry testing is typically reserved for testing older children and adults. Another routine method of identifying the syndrome is with a contrast X-ray of the abdomen or belly. The contrast dye in the bowels will help professionals identify sections without nerves in the images.

A biopsy, where a sample of tissue is removed for testing, is another method for diagnosing the issue. Testing the muscles will determine if the nerves are missing. This method is the most accurate way of identifying Hirschsprung’s disease. 

Treatment & Therapy

The only proven way to treat HD is with surgery. A surgical procedure is used to bypass the portion of the intestines where the nerves cells are missing. Surgery may also be used to remove the diseased portions of the colon rather than bypassing it. During the surgery, the normal colon will be pulled through and attached to the rectum in place of the portions that do not have the necessary nerve endings to function.

This type of surgery is usually done in a minimally invasive laparoscopic method that doesn’t involve larger incisions. In those that are very ill, the surgery is often done in two phases, and will require a procedure involving an ostomy pouching system to completely bypass the affected portion of the colon until the body has healed enough for the next phase.

Before surgery or full diagnosis, treatments to assist with constipation may be required. A common therapy for constipation includes the use of laxatives or medicines to loosen stool and make bowel movements easier. Enemas, which use water to flush the colon, are another routine treatment for constipation. If enterocolitis occurs, it can be treated at the hospital with antibiotics.

Prevention & Prophylaxis

There are no current methods for preventing HD because the cause of the condition is not known. It has been determined that Hirschsprung’s is not likely caused by anything the mother does during pregnancy. Following the basic healthy habits suggested by a medical professional during pregnancy will contribute to the overall health of the child, but will not prevent the disorder from occurring.

Although there are no known methods for prevention, it is possible to prevent or reduce the complications associated with the illness. Before and after surgery digestive health can be improved by eating a high fiber diet, increasing fluids, and engaging in regular exercise. Keeping to a diet of foods that do not cause gas will also prevent discomfort.