Hirschsprung disease is a rare ailment of the gastrointestinal tract that affects a person right from the time of their birth, due to structural defects in the abdominal tract. Also Read: Abdominal Adhesions: Causes, Symptoms And Treatment

It is a congenital defect, implying it develops during pregnancy in the mother's womb and results in the baby being unable to pass the first stool medically termed as meconium. This is because certain nerve cells are missing from the large intestine of the baby. The main cause is genetic DNA aberrations that are passed on from the parent to the developing foetus.

Hirschsprung disease

In a normal human being, in the phase from pregnancy up until birth, nerve cells are gradually formed all along the digestive tract - from the oesophagus to the rectum, comprising a complex network of more than 500 million specialized cell types. These facilitate the smooth passage of ingested food and ensure normal excretory processes through the rectum and anus.

However, in a baby with Hirschsprung’s disease, the nerve cells at the end of the large intestine, right before the rectum and anus, cease to grow, thereby blocking the easy elimination of waste materials in the system.

This birth defect is named after the renowned Danish scientist Harald Hirschsprung’s, who was the first person to describe this condition in 1888.

Hirschsprung’s disease is, in most cases, detected immediately after birth, when the newborn fails to pass meconium which is its first stool. If this condition is not detected immediately after the delivery of the baby, it could lead to severe complications. Nevertheless, advancements in diagnosis and treatment procedures in medicine have guaranteed the efficient remedy of Hirschsprung’s disease by means of surgery.


The characteristic symptoms of Hirschsprung’s disease in a baby comprise:

Diagnosis And Treatment:

The medical practitioner specializing in children’s health anomalies, also called a paediatrician, initially examines all external aspects of the child.

He or she then carries out an abdominal X-ray, to scan for any clogs in the intestinal tract. A sample of child’s tissue, known as a biopsy, is also excised from the rectum, to scrutinize for any abnormalities in the structure of the gut and excretory passage.

Once the diagnosis of Hirschsprung disease is confirmed by the doctor, treatment procedures are initiated. Surgery for Hirschsprung’s disease involves one of the two following procedures:

Pull-Through Procedure:

Here, the physician carefully cuts off the portion of the large intestine where nerve cells are missing and then rejoins the rest of the tubular passage with the rectum, to enable unobstructed flow of stool and other body wastes.

Ostomy Surgery:

Here, the intestinal tubes are rerouted to an opening created in the anal passage of the child. In this manner, the accumulation of toxic wastes and stool is prevented in the intestines of the baby and smooth excretion processes are facilitated.