Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait.
Duodenal atresia is a disease of newborn infants. Absence or complete closure (atresia) of a portion of the channel (lumen) within the first part of the small intestine (duodenum), or partial obstruction due to narrowing (stenosis) of the duodenum, is present. Other associated abnormalities may be found in over half of those affected with duodenal atresia or duodenal stenosis.
Duodenal atresia and duodenal stenosis are abnormalities in which there is an absence or complete closure (atresia) in the first part of the small intestines (duodenum) or narrowing (stenosis) of the duodenum. These obstructions in the digestive tract of infants prevent proper absorption of food.
The defect in the duodenum may be located in the area where the pancreatic and bile ducts join as they open into the first part of the small intestines (ampulla of Vater,) or in the portion of the duodenum furthest from the opening of the ampulla of Vater. There may be an absence of the channel at the top of the small intestine, a ring or web in the duodenum, an abnormally small channel at the top of the small intestines, or the duodenum may end with just a short chord going to the bowel.
Symptoms of a complete blockage of the duodenum may include bilious vomiting (a yellow-green secretion arising from the liver or in some cases a clear or light brown granular matter) typically beginning a few hours after birth, distention or swelling of the upper abdomen, constipation resistant to treatment, a yellow discoloration of the skin (jaundice) and/or an excess of amniotic fluid detected before birth (polyhydramnios) through ultrasound.
Symptoms of partial duodenal blockage vary depending on the severity. They may wax and wane not appearing for weeks, months, or years. Prolonged vomiting along with dehydration may also occur.
Other problems associated with this disorder may include intestines that are shorter than normal, low birth weight, premature birth, and/or an imbalance of electrolytes (the elements in the blood, tissue, and cell fluid needed in correct amounts for the use of energy).
Associated abnormalities have been found in some infants with duodenal atresia or duodenal stenosis. Twenty to thirty percent of individuals affected with these disorders have Down syndrome and twenty-two percent have heart disease. An abnormal rotation of the colon, a ring shaped pancreas encircling a portion of the duodenum (annulas pancreas), an abnormal tubelike passage between the windpipe and esophagus (tracheoesophageal fistula), and/or kidney malformations can also be associated with these conditions. (For more information on these disorders choose “Esophageal Atresia”, “Down Syndrome”, and/or “Tracheoesophageal Fistula” as your search terms in the Rare Disease Database).
The majority of cases of duodenal atresia or stenosis occur for no apparent reason (sporadically). There are two theories as to why the abnormalities may occur. Blood vessel defects in the embryo may cause the absence or closure of the duodenum by decreasing the blood supply in the affected area, or there may be an overgrowth of cells in the duodenum that obstruct the channel of the first part of the duodenum (lumen) occuring during the sixth or seventh week of fetal development.
A few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.
Duodenal atresia or stenosis is a rare disorder that occurs in approximately 1 of 7,500 live births to 1 of 40,000 live births. In Finland, the rate goes up to 1 case per 3,400 live births. Males and females are affected in equal numbers.
Duodenal atresia may be recognized through ultrasound by the presence of a “double bubble” which can be seen in the abdominal area. The earlier the disorder is recognized and surgery is performed, the better the outcome. Parenteral nutrition (food given through a vein or directly to the stomach, but not by mouth) may be needed for a period of time.
The surgery most often performed is a duodenojejunostomy. This is a procedure in which a connection is formed between the duodenum and the jejunum.
When the atresia is located in the first part of the duodenum, a gastrojejunostomy may be the treatment of choice. This is a procedure in which there is a surgical creation of a connection between the stomach and jejunum bypassing the obstruction.
A duodenoduodenostomy is another surgical procedure sometimes used to create a connection or opening between the two portions of the divided duodenum.
Genetic counseling may be of benefit for patients and their families with the hereditary form of the disorders.
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