Hirschsprung’s Disease

Medically Reviewed by Dr. K. Updated as of May 13, 2022

What Is Hirschsprung's Disease?

Hirschsprung's disease (also called congenital aganglionic megacolon) is a birth defect in which nerve cells are missing at the end of a child's bowel. It's a life-sustaining cycle: we consume food, digest it, and excrete what we don't need.

Excretion is very significant, despite the fact that it is often a source of disgust or humor. It normally starts on a baby's first day of birth, when the infant passes his or her first stool, referred to as the meconium.

However, some infants have difficulties. Hirschsprung's disease, a syndrome in which nerve cells in the large intestine are absent, may be the cause of a baby's inability to have a bowel movement. Harald Hirschsprung, a 19th-century Danish doctor first described the disease in 1888.

Hirschsprung's disease is a congenital syndrome that occurs during conception and presents itself at birth. Some congenital defects are caused by the mother's diet or an infection she sustained during birth. Others are due to the genes that the parents pass on to their children.

Hirschsprung's disease is unknown if certain individuals develop it, but researchers suspect it is linked to defects in DNA instructions. Despite the fact that the condition can be fatal, medical treatment can cure it with surgery to help children who have been treated live relatively regular, stable lives.


What Causes Hirschsprung’s Disease?

In the early months of birth, it starts to affect an infant.

Nerve cells are usually developed in the digestive system as the infant develops, from the oesophagus (which connects the mouth to the stomach) to the rectum. Normally, a person's nervous system contains up to 500 million of these cells. They carry food from one end of the digestive system to the other, among other items.

In a baby with Hirschsprung's disease (or congenital aganglionic megacolon), nerve cells cease developing at the end of the large intestine, just before the rectum and anus. The cells are also absent in other parts of the digestive system of some infants.

This ensures the body is unable to detect that waste material has reached a certain level. As a result, the waste material becomes trapped and clogs the system.

Hirschsprung's disease (or congenital aganglionic megacolon) affects about one out of every 5,000 babies. Some congenital disorders, such as Down syndrome and cardiac defects, cause them to be more vulnerable in developing the disease.

Hirschsprung's disease may be passed on to children by parents who carry the gene for the disease in their genes, particularly mothers. It affects boys more than it affects girls.

Symptoms of Hirshsprung's Disease

Symptoms vary with age. Approximately 80% of children with the disease have symptoms in the first six weeks of their lives. However, children who only have a short segment of the intestine that lacks normal nerve cells may not exhibit symptoms for several months or years. For these children, their primary symptom is constipation.

Each child may experience symptoms differently, but some signs and symptoms to look out for include:

  • No bowel movements: If the newborn does not develop a stool or meconium within the first few days, you should be concerned. 
  • Bloody diarrhea: Hirschsprung's disease may also induce enterocolitis, a life-threatening inflammation of the colon, as well as extreme diarrhea and gas.
  • Abdominal distention (stomach bloating)
  • Gradual onset of vomiting: Children with Hirschsprung's disease may have green or brown colored vomit
  • Fever
  • Constipation or failure to pass regular bowel movements

Children who don’t have early symptoms may experience the following signs of Hirschsprung’s disease as they get older:

  • Constipation that becomes worse with time: Hirschsprung's disease can cause chronic (ongoing) constipation in older children.
  • Loss of appetite
  • Fatigue
  • Delayed growth
  • Passing small, watery stools
  • Abdominal distention

Diagnosis of Hirshsprung's Disease

If your child exhibits these signs, you can contact your doctor right away. Hirschsprung's can be confirmed by a series of tests:

  • A contrast enema: It's also known as a barium enema, named for the compound used in the pigment used to coat and highlight the insides of the body's organs. Your child will be laid face down on a table while the dye is injected into the intestines through a tube from the anus. There is no need for anaesthesia (a drug that numbs or blocks pain). On X-rays, the pigment helps the doctor to see problem regions. The contrast enema is part of a series of studies on the gastrointestinal tract known as a “lower GI series."
  • An abdominal X-ray: This is a typical X-ray that the technician will take from various angles. Your doctor will be able to see if anything is obstructing your intestines.
  • A biopsy: A tiny amount of tissue from your child's rectum would be taken by your doctor. Hirschsprung's disease can be examined in the tissue. The doctor can use anaesthesia depending on your child's age and height.
  • Anorectal manometry: This test involves inflating a small balloon inside the rectum to see how the muscles react. Only older children are subjected to this evaluation.

Treatment of Hirshsprung's Disease

Hirschsprung's disease is a life-threatening illness. However, if detected soon, it can be able to assist your child in leading a relatively normal life.

Usually, surgeons will perform one of two forms of surgery:

  • Pull-through procedure: This procedure involves removing the section of the large intestine that contains the missing nerve cells. The remainder of the intestine is then immediately connected to the anus.
  • Ostomy surgery: This technique binds the intestine to a body opening. The doctor then puts an ostomy bag on the outside of the opening to store intestinal waste. Ostomy surgery is also used as a temporary solution before the infant is ready for the pull-through operation.

Any children can develop constipation, diarrhoea, or incontinence following surgery (lack of control over bowel movements or urination).

Enterocolitis may affect a small number of people. Rectal bleeding, fever, vomiting, and a swollen belly are all symptoms. Take your kid to the doctor right away if anything happens.

However, with good care, including a healthy diet and lots of water, these symptoms can ease, and most children should be able to resume regular bowel movements after a year of treatment. Other children will have gastrointestinal problems on and off throughout their lives. Hirschsprung's condition is a lifetime problem and can be controlled because it is congenital.

Risk Factors of Hirshsprung's Disease

Factors that may increase the risk of Hirschsprung's disease include:

  • Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological children could be at risk.
  • Being male. Hirschsprung's disease is more common in males.
  • Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.

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