How is Hirschsprung's Disease diagnosed? An ERNICA animation for parents and families

Hirschsprung's disease is also known as agangliosis of the colon.

Babies with Hirschsprung's disease often display symptoms such as vomiting and a swollen belly.

Babies with Hirschsprung's disease do not pass meconium after birth and subsequent feces.

Meconium is a substance that builds up in a baby's bowel when it's still developing in the womb.

The clinical team can help to remove a buildup of meconium or feces by using a special tube called a rectal cannula (irrigation).

Relief following irrigation can be a sign of Hirschsprung's disease.

No relief of symptoms following irrigation could mean that the baby has long segment Hirschsprung's disease or perhaps another diagnosis.

Long segment Hirschsprung's disease occurs when ganglion cells are missing from most of the large intestine.

If irrigation does not work sufficiently, surgery is needed to create an opening in the body (stoma) for meconium or feces to pass through.

A diagnosis of Hirschsprung's disease can be confirmed after birth using a contrast enema.

During a contrast enema, a special liquid is passed into a baby's bowel through their anus and then an X-ray is performed.

Normally the rectum is wide and the colon smaller and segmented.

A baby with Hirschsprung's disease will have a smaller rectum and part of the colon will be dilated (expanded).

To confirm a diagnosis of Hirschsprung's disease, it is essential that samples of tissue from the child's colon above the anal canal are taken (rectal biopsy).

There are two types of rectal biopsy: rectal suction biopsy and full thickness biopsy.

In a rectal suction biopsy, a medical instrument is inserted into the rectum via the anus and collects samples of tissue from the rectum.

The tissue is studied under a microscope to check for the presence of ganglion cells and thickened nerve fibers.

When a suction biopsy does not provide enough tissue or the child is older, a full thickness biopsy may be necessary.

A full thickness biopsy is a procedure where a small strip is removed from the rectal wall for investigation, done in an operating room with the child under general anesthetic.

It may be possible for the clinical team to obtain a sample of tissue from the colon during a surgical procedure, allowing multiple tissue samples from different parts of the bowel to be taken if necessary.

The samples of tissue need to be analyzed by a specialized, experienced pathologist.

When a diagnosis of Hirschsprung's disease is confirmed and the length of the affected bowel area is known, surgery can be planned.

Before surgery, irrigations can help to relieve the bowel, and parents can be trained to perform these at home.

In surgery for Hirschsprung's disease, the affected part of the bowel is removed and the remaining bowel is connected to the anal canal.