Structural Problems

Around ten percent of children born with Down syndrome will have one of the following structural problems. The most common problems are discussed below. Small bowel obstruction A small bowel obstruction occurs when something is blocking the small bowel so food is unable to pass from the stomach to the large bowel. This can be a complete obstruction; where part of the bowel has failed to form at all, or a partial obstruction; where the bowel has formed but is narrower than a normally formed small bowel. When the blockage is severe, it may be detectable before birth using an ultrasound scan. If the problem is not detected before birth, problems will usually present in the first few hours or days of life with vomiting or failure to pass stools. A less severe obstruction may not present so obviously, but vomiting is still likely to be the main symptom. An x-ray is the best way to determine if there is a blockage and surgery is the most common form of treatment. The surgery involves removing the blocked section of bowel and reattaching again. In a small number of milder cases, surgery may be avoided through dietary intervention. Abnormalities of the anus Sometimes babies are born without an anal opening (Imperforate anus). This is not common but occurs more often in children with Down syndrome. This condition is noticed at birth and requires immediate action. The extent of corrective surgery depends on the severity of the abnormality. Less severe problems occur when the anal opening is narrow thus causing constipation. In less severe cases, the opening can sometimes be stretched while the child is under anesthesia. The more severe cases require corrective surgery. Annular Pancreas This problem is similar to an obstruction. The pancreas normally lies behind the lower part of the stomach and the first part of the small bowel. With this condition, the pancreas encircles the duodenum (the first short section of the small intestine immediately beyond the stomach) causing narrowing or blockage. Hirschprung's disease Hirschprung's disease is a relatively rare condition that tends to be found more often in children with Down syndrome (approximately two percent of children with Down syndrome). It is an abnormality of the lower part of the large bowel where part of the bowel wall is missing nerve cells. This means it cannot do its normal work of evacuating stools. Sometimes a long segment of bowel wall is affected. In this case it may be obvious in the newborn period because the baby does not pass any stools. More often these babies have chronic constipation, poor weight gain, vomiting and a swollen abdomen. If however only a short part of the bowel is involved (short segment Hirschprung's disease) symptoms are less severe. It is in these children that the diagnosis may be easily missed. It is important to consider the possibility of short segment Hirschprung's in any child whose constipation persists despite dietary measures and simple laxatives. A diagnosis is made through a thorough medical examination, X-ray and biopsy of the bowel. Treatment usually involves surgery to remove the diseased part of the bowel. Sometimes it is necessary to use a colostomy after surgery. This is when the upper end of the remaining bowel is temporarily attached to an opening or stoma in the abdominal wall, through which stools are passed into a bag. This allows the bowel to heal. Then the sections of bowel can be reattached.