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November 2005
HIRSCHSPRUNGS DISEASE
Hirschsprungs Disease (also called congenital megacolon, congenital intestinal aganglionosis or aganglionic megacolon) Condition Description Hirschsprungs disease (HURSH-sproongz . duh-zeez) is a congenital condition where the large intestine (rectal area) lacks a kind of nerve cell called ganglion cells. Most babies (80%) have just a short segment of bowel affected, termed short segment disease. Other babies (about 15% of those with Hirschprungs disease) have a larger section of colon that lacks these special cells, and that affected bowel is located higher up in the colon (long-segment disease). A few babies (perhaps 5%) will lack these cells in their entire large intestine (called aganglionosis). During fetal life a particular type of cell from the parasympathetic nervous system fails to migrate to the bowel, and thus the affected area has only sympathetic nerves in that area. The sympathetic nerves cause contraction of the bowel, and since they lack the parasympathetic system that has the opposite effect, the bowel does not relax to allow stool to pass through. This results in a narrow and contracted bowel segment with a large amount of stool dilating the bowel ahead of the narrowing (the enlarged area is called megacolon). Most babies (at least 50%) with Hirschprungs disease are diagnosed in the first 48 hours of life because they do not pass meconium (the first stool after birth, dark and sticky in consistency) and have abdominal distention. However, other infants with a
www.health.state.mn.us/mcshn milder form of the condition (partial innervation of the segment resulting in only a partial blockage) have constipation, vomiting, abdominal pain and distention, and sometimes, anemia, and they will be diagnosed in the first two months of life because of those symptoms. Rarely, Hirschsprungs disease is diagnosed later in childhood or adulthood following a lifelong constipation problem. Prevalence Hirschsprungs disease occurs in 1 of 5000 live births and accounts for 20% of neonatal bowel obstructions. The most common type is three to four times more common in boys than girls. A family history can be traced in 7% of cases. There is a mortality rate of 20-25%. Children with Down syndrome (Trisomy 21) have a 3-10% risk of also being affected with Hirschsprungs disease. Common Associated Symptoms In the newborn period acute intestinal obstruction with bilious vomiting can become life-threatening. Infection can develop and spread throughout the system causing severe symptoms. In less severe cases where Hirschsprungs disease is not promptly diagnosed, the baby will typically have irritability, poor growth and difficulty with feeding (called failure to thrive) as well as chronic constipation.
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