Question:
My son was diagnosed with duodenal atresia prior to birth. He had a surgical repair, and we later discovered he has Hirschsprung’s disease also. Is it common for these two conditions show up together in Down syndrome?
Answer:
Children with Down syndrome (DS) have a greater prevalence of having certain anomalies in the gastrointestinal tract.
Hirschsprung disease (HD) is one of those anomalies that is more common. A meta-analysis (a review and summary of multiple studies) found that 2.62% of over 29,000 people with DS studied had HD. In individuals with HD, nerve cells that stimulate the colon to function do not form correctly during fetal development (before the child is born). This causes poor function of the colon resulting in poor elimination of stool and the build-up of stool in the colon. It can also cause the colon to become stretched or enlarged. The symptoms most often become evident in early infancy and the diagnosis is usually made at that time. Rarely, HA may be diagnosed before the baby is born. Surgery is nearly always required and the part of the colon that does not function due to absence of the nerve cells is removed. More information about HD is available on Cincinnati Children’s Hospital’s website.
Duodenal atresia (DA) is also more common in children with DS. It is reported that about 5% of children with DS have DA. The duodenum is the first part of the small intestine that is attached to the stomach. What we eat and drink passes from the stomach into the duodenum. In DA, an infant is born with a very narrow or blocked duodenum. Symptoms develop early in infancy and the child can quickly become very sick with vomiting and inability to eat. Sometimes DA is diagnosed before the baby is born. The condition requires surgery to remove the narrowed duodenum. More information about DA is available on Nationwide Children’s Hospital’s website.
With both conditions being more common in children with DS, it is not unexpected that a child could have both. Having DS does put a child more at risk for either condition, but it is not known if some additional factor in children with DS could put them more at risk to have both conditions. There are reports of infants with DS having both conditions, but additional study is needed.