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Esophageal atresia is a rare birth defect where the esophagus ends in a blind pouch, and can also present with abnormal passageways. Symptoms include drooling, choking, and cyanosis. Diagnosis is done via catheter or barium and can be surgically repaired, but complications can arise, including tracheomalacia.
Esophageal atresia is a birth defect in which the esophagus, the tube that normally leads from the throat to the stomach, ends in a blind pouch instead of reaching the stomach. The condition can also present with one or more fistulas, or abnormal passageways, between the esophagus and the windpipe or windpipe, called tracheoesophageal fistulas. Esophageal atresia is a rare condition, present in approximately one in 4425 live births. The causes of the condition are unknown.
Esophageal atresia develops in the fourth fetal week. It can be diagnosed at birth or before birth via ultrasound. Symptoms of esophageal atresia in an infant include drooling due to an inability to swallow saliva, choking, coughing, and sneezing. The baby may also become cyanotic, which means the skin turns blue, due to lack of oxygen.
If esophageal atresia is suspected, it can be diagnosed by inserting a catheter down the child’s throat or by placing barium, a chalk-like liquid, in the mouth and then taking an X-ray. The catheter or barium will show up on the x-ray image, indicating the end of the esophagus. The esophageal atresia can then be surgically repaired.
In some cases, if the space between the two portions of the esophagus is too far apart, it is not possible to repair the defect by surgery. Instead, a gastrostomy is performed, which allows tube feeding directly into the stomach. An esophagostomy, which allows saliva to drain outside the body directly from the esophagus through a tube, may also be performed. Often, in these cases, the esophageal atresia can be surgically repaired later in life.
Even after surgical repair, esophageal atresia can have complications. These can include frequent heartburn and trouble swallowing, or the development of a leak or tight spot in the esophagus at the repair site. Additional surgery may be helpful to manage these complications.
A possible serious complication of esophageal atresia is tracheomalacia, which is a weakening of the windpipe. This condition can cause fluid to accumulate during feeding and obstruct the trachea, leading to severe hypoxia or lack of oxygen. Tracheomalacia sometimes resolves on its own, as the windpipe stiffens as the child matures, and can sometimes be fixed with fairly simple surgery, such as placing a stent to support the windpipe.
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