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Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD can’t pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with HD are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An HD diagnosis in an adult is rare.
Before birth, a child’s nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.
People with HD have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine.
How severe HD is depends on how much of the large intestine is affected. Short-segment HD means only the last part of the large intestine lacks nerve cells. Long-segment HD means most or all of the large intestine, and sometimes the last part of the small intestine, lacks nerve cells.
In a person with HD, stool moves through the large intestine until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops, causing an intestinal obstruction.
Healthy large intestine. Nerve cells are found throughout the large intestine.
Short-segment HD. Nerve cells are missing from the last segment of the large intestine.
Long-segment HD. Nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine.
The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem.
Symptoms in Newborns
Newborns with HD almost always fail to have their first bowel movement within 48 hours after birth. Other symptoms include
Symptoms in Toddlers and Older Children
Symptoms of HD in toddlers and older children include
HD is diagnosed based on symptoms and test results.
A doctor will perform a physical exam and ask questions about your child’s bowel movements. HD is much less likely if parents can identify a time when their child’s bowel habits were normal.
If HD is suspected, the doctor will do one or more tests.
X rays. An x ray is a black-and-white picture of the inside of the body. To make the large intestine show up better, the doctor may fill it with barium liquid. Barium liquid is inserted into the large intestine through the anus. If HD is the problem, the last segment of the large intestine will look narrower than normal. Just before this narrow segment, the intestine will look bulged. The bulging is caused by blocked stool stretching the intestine.
Manometry. During manometry, the doctor inflates a small balloon inside the rectum. Normally, the rectal muscles will relax. If the muscles don’t relax, HD may be the problem. This test is most often done in older children and adults.
Biopsy. Biopsy is the most accurate test for HD. The doctor removes a tiny piece of the large intestine and looks at it with a microscope. If nerve cells are missing, HD is the problem.