Hirschsprung’s Disease

What is Hirschsprung's disease

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 Hirschsprung disease can't pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with Hirschsprung disease are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An Hirschsprung disease diagnosis in an adult is rare.

Why does Hirschsprung's disease cause constipation

People with Hirschsprung disease 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.

In a healthy large intestine the nerve cells are found throughout the large intestine. Short-segment Hirschsprung disease. Nerve cells are missing from the last segment of the large intestine. Long-segment Hirschsprung disease. Nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine. How severe Hirschsprung disease is depends on how much of the large intestine is affected. Short-segment Hirschsprung disease means only the last part of the large intestine lacks nerve cells. Long-segment Hirschsprung disease means most or all of the large intestine, and sometimes the last part of the small intestine, lacks nerve cells.

In a person with Hirschsprung disease, 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.

Hirschsprung's disease is a blockage of the large intestine due to improper 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 materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions.

In Hirschsprung's disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen.

Hirschsprung's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes associated with 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 - 48 hours after birth Infrequent but explosive stools Jaundice Poor feeding Poor weight gain Vomiting Watery diarrhea (in the newborn) Symptoms in older children: Constipation that gradually gets worse Fecal impaction Malnutrition Slow growth Swollen belly

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