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EUPSA/ERNICA
What is Hirschsprung's Disease? An ERNICA animation for parents and families
Chapter 1 of 4 · Fundamentals
Anatomy & pathophysiology
Normal bowel anatomy, physiology, and introduction to Hirschsprung's disease
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Host summaries · secondary, not cited in answers
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Hirschsprung's disease is also known as agangliosis of the colon.
Peristalsis, the movement needed to move food through the bowel, requires ganglion cells in the bowel wall.
Ganglion cells cover the full length of the bowel and form during a baby's development before birth.
Some babies are born with a bowel wall that is not entirely covered by ganglion cells, making peristalsis difficult; this is called Hirschsprung's disease.
Hirschsprung's disease is classed as a rare birth defect.
The cause of Hirschsprung's disease is unknown.
Hirschsprung's disease can be associated with a syndrome such as Down syndrome or with certain genetic defects involving the RET gene.
In Hirschsprung's disease, the absence of ganglion cells always starts at the rectum end of the bowel.
Most of the time, ganglion cells are missing from the end of the colon.
Ganglion cells can be missing from more of the colon or the small intestine, but this happens less often.
Due to difficulties with bowel movement, a baby with Hirschsprung's disease may not pass meconium or this may be delayed.
A baby with Hirschsprung's disease may experience vomiting, a swollen belly, and a buildup of feces in the body.
Sometimes babies with Hirschsprung's disease don't show symptoms straight away after birth; symptoms can present later on, for example when the baby starts to eat solid food.
The feces that have built up in the colon can be removed through a special tube called a rectal cannula in a process called irrigation.
If irrigation is not sufficient to relieve the bowel or other complications arise, it may be necessary to create an opening in the body for feces to pass through, known as a stoma.
A diagnosis of Hirschsprung's disease is confirmed after birth by taking a sample of tissue from the baby's rectum through the anus, a procedure known as a rectal biopsy.
When 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, which helps to bring back bowel movement.
If the child has had a stoma, this can be surgically closed.
A baby with Hirschsprung's disease should be treated at a specialist center by a dedicated team of different professionals who have knowledge and experience of looking after babies with Hirschsprung's disease.
Although surgery can help to relieve symptoms, a developing baby with Hirschsprung's disease may experience ongoing difficulties that require different types and levels of care.
Post-surgical difficulties in Hirschsprung's disease may include constipation (when it is difficult to pass feces) and a lack of control over bowel movements.
Sometimes support with bowel management is necessary after surgery for Hirschsprung's disease.
Structured regular follow-up care by a team of different clinical specialists (ideally a multidisciplinary team or MDT) is essential for babies with Hirschsprung's disease.
Identifying any complications or difficulties early in Hirschsprung's disease is very important.
Even if a child has symptoms after corrective surgery for Hirschsprung's disease, these can improve as they grow older.
Peer support for families of children with Hirschsprung's disease can be accessed through patient and family support groups.