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

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

No relief of symptoms following irrigation could mean the baby has long segment Hirschsprung's disease or 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 a stoma for meconium or feces to pass through

A contrast enema test involves passing special liquid into a baby's bowel through their anus followed by X-ray

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

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

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

In rectal suction biopsy, tissue is studied under microscope to check for presence of ganglion cells and thickened nerve fibers

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

Full thickness biopsy is done in an operating room with the child under general anesthetic

Tissue samples obtained during surgical procedures can show the location of ganglion cells covering the bowel wall because multiple samples from different parts can be taken

Tissue samples need to be analyzed by a specialized, experienced pathologist

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