Table of ContentsView AllTable of ContentsDefinition and CausesWhat Causes Hirschsprung’s Disease?SymptomsTestingTreatment
Table of ContentsView All
View All
Table of Contents
Definition and Causes
What Causes Hirschsprung’s Disease?
Symptoms
Testing
Treatment
Hirschsprung’s disease is a congenital cause ofintestinal blockageor obstruction. It’s uncommon, occurring in about 1 in every 5,000 births, and occurs more often in males than in females. Hirschsprung’s disease is not curable, but it is treatable.
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The life expectancy of someone with Hirschsprung’s disease is reduced if the condition goes untreated. Surgical treatment generally results in excellent outcomes.
What Is Hirschsprung’s Disease?
Hirschsprung’s disease was named for Harald Hirschsprung, a Danish pediatrician who first described the disorder in two children.
The disease is also called congenital aganglionic megacolon, meaning it’s a disorder you’re born with that causes nerve cells to be missing from the intestine.
It is sometimes seen more often in children who have other inherited conditions. One of them isDown syndrome.
Hirschsprung’s disease also shows up in some people who have type IV Waardenburg syndrome, also known as Waardenburg-Hirschsprung disease.Waardenburg syndromerefers likewise to a group of genetic conditions. It causes hearing loss and changes in pigmentation (coloring) of hair, skin, and eyes.
Characteristics of Hirschsprung’s Disease
Newborn babies will usually pass their first bowel movement (the black tarrymeconium) within the first twenty-four hours of life.
Most of the children with Hirschsprung’s disease will have a delay in passing meconium. Some others will develop chronic constipation later in the first month of life. Either way, it can lead to intestinal obstruction, with many associated signs and symptoms, including:
Testing for Hirschsprung’s Disease
Testing can be done to diagnose Hirschsprung’s disease. It includes:
To confirm the diagnosis, a rectal biopsy is done, which should show the lack of ganglion cells in the end of the colon and rectum.
Testing for the suspicion of Hirschsprung’s should usually start with a barium enema. If the barium enema is normal, then there is a very low chance of the child having Hirschsprung’s. Children with an abnormal barium enema or who fail regular medical treatments for constipation should then go on to have a rectal biopsy.
Treatments for Hirschsprung’s Disease
It is sometimes possible to do a single-stage pull-through procedure or even to do the surgery laparoscopically.
The type of surgical repair will likely depend on your child’s specific case. For example, some infants are too sick when they are first diagnosed to have one-stage surgery.
A pediatric gastroenterologist and a pediatric surgeon can be helpful in diagnosing and treating your child with Hirschsprung’s disease.
Summary
Hirschsprung’s disease is an uncommon birth defect that affects nerve cells in the large intestine. Its primary symptom is intestinal obstruction, which usually occurs shortly after birth. This condition often shows up within the first year of life, but some children may not have symptoms until years later.
4 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nationwide Children’s Hospital.Hirschsprung disease.Sergi C.Hirschsprung’s disease: historical notes and pathological diagnosis on the occasion of the 100th anniversary of Dr. Harald Hirschsprung’s death.World J Clin Pediatr. 2015;4(4):120-125. doi:10.5409/wjcp.v4.i4.120National Institute of Diabetes and Digestive and Kidney Diseases.Definition & facts for Hirschsprung disease.MedlinePlus.Waardenburg syndrome.Additional ReadingHirschsprung’s Disease. Pediatric Gastrointestinal and Liver Disease (Fourth Edition), 2011, Pages 576-582.e2Hirschsprung Disease. Pediatric Surgery (Seventh Edition), 2012, Pages 1265-1278
4 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nationwide Children’s Hospital.Hirschsprung disease.Sergi C.Hirschsprung’s disease: historical notes and pathological diagnosis on the occasion of the 100th anniversary of Dr. Harald Hirschsprung’s death.World J Clin Pediatr. 2015;4(4):120-125. doi:10.5409/wjcp.v4.i4.120National Institute of Diabetes and Digestive and Kidney Diseases.Definition & facts for Hirschsprung disease.MedlinePlus.Waardenburg syndrome.Additional ReadingHirschsprung’s Disease. Pediatric Gastrointestinal and Liver Disease (Fourth Edition), 2011, Pages 576-582.e2Hirschsprung Disease. Pediatric Surgery (Seventh Edition), 2012, Pages 1265-1278
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Nationwide Children’s Hospital.Hirschsprung disease.Sergi C.Hirschsprung’s disease: historical notes and pathological diagnosis on the occasion of the 100th anniversary of Dr. Harald Hirschsprung’s death.World J Clin Pediatr. 2015;4(4):120-125. doi:10.5409/wjcp.v4.i4.120National Institute of Diabetes and Digestive and Kidney Diseases.Definition & facts for Hirschsprung disease.MedlinePlus.Waardenburg syndrome.
Nationwide Children’s Hospital.Hirschsprung disease.
Sergi C.Hirschsprung’s disease: historical notes and pathological diagnosis on the occasion of the 100th anniversary of Dr. Harald Hirschsprung’s death.World J Clin Pediatr. 2015;4(4):120-125. doi:10.5409/wjcp.v4.i4.120
National Institute of Diabetes and Digestive and Kidney Diseases.Definition & facts for Hirschsprung disease.
MedlinePlus.Waardenburg syndrome.
Hirschsprung’s Disease. Pediatric Gastrointestinal and Liver Disease (Fourth Edition), 2011, Pages 576-582.e2Hirschsprung Disease. Pediatric Surgery (Seventh Edition), 2012, Pages 1265-1278
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