Hirschsprung disease
Congenital megacolon; Hirschsprung's diseaseHirschsprung disease causes a blockage of the large intestine. It occurs due to poor muscle movement in the bowel. It is a congenital condition, which means it is present from birth.
Causes
Muscle contractions in the gut help digested foods and liquids move through the intestine. This is called peristalsis. Nerves between the muscle layers trigger the contractions.
In people with Hirschsprung disease, the nerves are missing from a part of the bowel. Areas without these nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage. The bowel and abdomen swell as a result.
Hirschsprung disease causes about 25% of all newborn intestinal blockages. It occurs 5 times more often in males than in females. Hirschsprung disease is sometimes linked to other inherited or congenital conditions, such as Down syndrome.
Symptoms
Symptoms that may be present in newborns and infants include:
- Difficulty with bowel movements
- Failure to pass meconium shortly after birth
- Failure to pass a first stool within 24 to 48 hours after birth
- Infrequent but explosive stools
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Jaundice
Jaundice
Newborn jaundice occurs when a baby has a high level of bilirubin in the blood. Bilirubin is a yellow substance that the body creates when it replac...
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- Poor weight gain
-
Vomiting
Vomiting
A swollen abdomen is when your belly area is bigger than usual.
Read Article Now Book Mark Article - Watery diarrhea (in the newborn)
Symptoms in older children:
-
Constipation that gradually gets worse
Constipation that gradually gets worse
Constipation in infants and children means they have hard stools or have problems passing stools. A child may have pain while passing stools or may ...
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- Malnutrition
-
Slow growth
Slow growth
Delayed growth is poor or abnormally slow height or weight gains in a child younger than age 5. This may just be normal, and the child may outgrow i...
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Swollen belly
Swollen belly
A swollen abdomen is when your belly area is bigger than usual.
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Exams and Tests
Milder cases may not be diagnosed until the baby is older.
During a physical exam, the health care provider may be able to feel loops of bowel in the swollen belly. A rectal exam may reveal tight muscle tone in the rectal muscles.
Tests used to help diagnose Hirschsprung disease may include:
-
Abdominal x-ray
Abdominal x-ray
An abdominal x-ray is an imaging test to look at organs and structures in the abdomen. Organs include the liver, spleen, stomach, and intestines. Wh...
Read Article Now Book Mark Article - Anal manometry (a balloon is inflated in the rectum to measure pressure in the area)
-
Barium enema
Barium enema
Barium enema is a special x-ray of the large intestine, which includes the colon and rectum.
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Rectal biopsy
Rectal biopsy
A rectal biopsy is a procedure to remove a small piece of tissue from the rectum for examination.
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Treatment
A procedure called serial rectal irrigation helps relieve pressure in (decompress) the bowel.
The abnormal section of colon must be taken out using surgery. Most commonly, the rectum and abnormal part of the colon are removed. The healthy part of the colon is then pulled down and attached to the anus.
Sometimes this can be done in one operation. However, it is often done in two parts. A colostomy is performed first. The other part of the procedure is done later in the child's first year of life.
Outlook (Prognosis)
Symptoms improve or go away in most children after surgery. A small number of children may have constipation or problems controlling stools (fecal incontinence). Children who get treated early or who have a shorter segment of bowel involved have a better outcome.
Possible Complications
Complications may include:
- Inflammation and infection of the intestines (enterocolitis) may occur before surgery, and sometimes during the first 1 to 2 years afterwards. Symptoms are severe, including swelling of the abdomen, foul-smelling watery diarrhea, lethargy, and poor feeding.
- Perforation or rupture of the intestine.
- Short bowel syndrome, a condition that can lead to malnourishment and dehydration.
When to Contact a Medical Professional
Contact your child's provider if:
- Your child develops symptoms of Hirschsprung disease
- Your child has abdominal pain or other new symptoms after being treated for this condition
References
Bass LM, Wershil BK. Anatomy, histology, embryology, and developmental anomalies of the small and large intestine. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 98.
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Motility disorders and Hirschsprung disease. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 358.
Review Date: 11/6/2023
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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