GI Abnormalities in Down Syndrome
Gastrointestinal Defects are Common Findings in Trisomy 21
Oct 21, 2008
Down syndrome is a complex disorder; many of its markers can be detected before birth. Some GI anomalies require urgent attention, while others may evade early diagnosis.
Individuals with Down syndrome can be affected by a variety of congenital anomalies. In addition to heart defects, skeletal and neurologic abnormalities, and disorders of endocrine and immunologic function, many patients exhibit significant gastrointestinal (GI) problems.
Some congenital defects associated with Down syndrome can be identified before birth or immediately thereafter. Others may go undiagnosed until months, or even years, later.
Gastrointestinal Abnormalities Associated with Down Syndrome
- Esophageal atresia: Normally, the esophagus is a continuous tube. In some infants with Down syndrome, the esophagus is interrupted at some point along its length and ends in a blind cul-de-sac. This defect often becomes obvious when the baby starts to feed; regurgitation and coughing occur. Surgical repair or reconstruction is necessary to allow passage of food into the stomach.
- Tracheoesophageal fistula: In nearly 90% of cases of esophageal atresia (see above), a passage between the trachea and esophagus also exists. This defect allows fluids to pass from the esophagus into the airway; feeding is accompanied by coughing and cyanosis. TE fistula also occurs in the absence of esophageal atresia; diagnosis may be delayed, as the infant will be able to eat—although feeding is usually accompanied by coughing or choking. Once diagnosed, TE fistulas are closed surgically. Coexisting esophageal atresia is repaired at the same time.
- Pyloric stenosis: The pylorus is a bottleneck that normally marks the transition from the stomach into the small intestine. Stenosis (abnormal narrowing) of this area is often noted in Down syndrome. Following feeding, projectile vomiting occurs in infants affected by pyloric stenosis. Surgical correction is relatively simple.
- Duodenal atresia: The duodenum is the first part of the small intestine, just beyond the pylorus. As is the case with esophageal atresia, the duodenum sometimes fails to form a complete tube. This defect can often be detected by ultrasound before birth, or by x-ray following delivery. Once diagnosed, a suction tube is passed into the stomach to prevent vomiting and aspiration. The defect is then surgically repaired.
- Meckel’s diverticulum: In early fetal life, a duct runs from the lower end of the small intestine, through the umbilical cord, and into the yolk sac. Normally, this duct disappears by the 7th week of gestation. When the duct fails to completely disappear, a diverticulum, or pouch, may remain. Meckel’s diverticuli contain all of the tissues found in normal bowel; they have been known to secrete stomach acid or pancreatic enzymes. They can ulcerate and bleed, or become inflamed and mimic appendicitis, or twist and obstruct the bowel. When they cause symptoms, Meckel’s diverticuli are surgically removed.
- Hirschprung’s disease: This condition, which usually involves the lowest segment of the colon, is caused by the congenital absence of nerves that stimulate waves of peristalsis along the gut. Without normal peristalsis, intestinal contents don’t move effectively past the defective area of bowel, leading to obstruction. When recognized in infancy, a colostomy is often performed to allow the elimination of waste; the colostomy is then “taken down” and repaired when the child is older.
- Imperforate anus: In this condition, the lower end of the bowel does not form completely, leaving the anus closed. The degree of this defect varies, and sometimes the bowel connects instead to the bladder, vagina, or urethra. Repair is surgical and may require a colostomy until the child is older.
Gastrointestinal defects are relatively common in Down syndrome. Prompt diagnosis is vital to proper management.
The copyright of the article GI Abnormalities in Down Syndrome in Physical Disabilities is owned by Stephen Allen Christensen. Permission to republish GI Abnormalities in Down Syndrome in print or online must be granted by the author in writing.
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