Hirschsprung's Disease

Hirschsprung's Disease is a condition in which certain components of the nervous system of the bowel are absent. These components are called ganglion. If the ganglion are absent, the affected bowel remains in spasm and is unable to propel the contents of the bowel any further.

Causes

The cause of intussusception is largely unknown, however, there is an hereditary component to it and certain genetic changes have been identified that have been present in some children with Hirschsprung's Disease. There is a similar condition called Chagas Disease, which is secondary to an infection which occurs predominantly in South America, which causes the death of ganglion. There is no evidence that any infection during pregnancy causes Hirschsprung's Disease.

Who gets it?

Hirschsprung's Disease occurs in approximately 1 in every 5,500 babies and affects boys 5 times more often than girls. The disease affects the bowel from the bottom end upwards for varying distances. Most commonly, it affects the lowermost part of the bowel, however, occasionally it can affect the entire large bowel and, rarely, the small bowel also.

What are the signs and symptoms?

Most babies who have Hirschsprung's Disease do not pass meconium on the 1st or 2nd day of life. There may also present within this time signs of a bowel obstruction, including swelling of the abdomen and bile stained vomiting. Sometimes, Hirschsprung's Disease may be present in the older baby or child with infrequent bowel actions since birth. Some of these children may only have their bowels open every 8-10 days.

How is the diagnosis confirmed?

The most important test to confirm the diagnosis is a biopsy of the lowermost part of the bowel. This is called a suction rectal biopsy which is not painful and can be performed by a Paediatric Surgeon with the baby awake. The babies often become distressed, however this is usually due to them being held still in a slightly uncomfortable position. Following the biopsy, there may be a day or two of blood mixed with the bowel actions.

What happens next?

Any baby or child who is thought to have Hirschsprung's Disease is immediately started on antibiotics. Their bowel is cleaned out using enemas and the biopsy is performed when the bowel is clean. Soon after the diagnosis has been confirmed, an operation will be performed to remove the affected part of the bowel and to bring the normal bowel down, near to the anus, in order to allow the baby to have normal spontaneous bowel actions.

What happens if this condition is not treated?

If a baby with Hirschsprung's Disease is not treated, there will be very infrequent bowel actions and there may be complications as a result of a bowel obstruction. There may also be a serious infection of the bowel, which can result in death. Once treated the prognosis is excellent. However, it is important to ensure that bowel actions are kept soft and to remain aware of the possibility of later bowel infection (enterocolitis) that can make the child very unwell. Any child with Hirschsprung's Disease (either before or after the major operation) who is unwell, with a swollen abdomen, with or without bloody diarrhoea will need emergency admission to hospital for intravenous antibiotics and washouts of the bowel.

In those babies in whom initial washouts of the bowel are unsuccessful in clearing out the bowel contents, a temporary colostomy will be required before the major operation can be safely performed at a later date.