NORD gratefully acknowledges Gregory Cichon and Madeline Halama, NORD Editorial Interns from the University of Notre Dame, and David E. Wesson, MD, Professor of Surgery, Baylor College of Medicine; Associate Surgeon-in-Chief, Texas Children’s Hospital, for assistance in the preparation of this report.
Jejunal atresia is a rare type of obstruction of the small bowel affecting newborns. Patients with this disorder are born with a complete mechanical obstruction of the proximal small intestine. The obstruction may be caused by a membrane across the lumen of the bowel (type 1) or a complete gap in the bowel (types 2 and 3). In type 3b, in addition to a gap, the jejunum folds up against one of the arteries that supply blood to distal small bowel and proximal large bowel (the ileo-colic artery and marginal artery) so that the bowel coils up in a manner that looks like an apple peel or Christmas tree. This is sometimes also called maypole bowel or pagoda bowel.
Jejunal atresia affects the passage of material through the small intestine. Symptoms in individuals with this disorder include poor feeding, vomiting bile, a swollen abdomen, and constipation.
Jejunal atresia occurs sporadically for unknown reasons in fetuses that are generally normal in all other respects. The best theory to explain what happens is that the blood flow to a segment of the bowel is cut off with the result that the affected segment disappears leaving a gap in the bowel.
There is some evidence to suggest a possible genetic cause, especially in cases of multiple jejunal atresia (type 4). This theory is based on reports of families with more than one affected child. An autosomal recessive pattern of inheritance has been proposed, but no specific genes have been found to be associated with the condition.
Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.
Although most babies with jejunal atresia are otherwise healthy, patients with the following diagnoses are believed to be predisposed to jejunal atresia: cystic fibrosis, gastroschisis and antenatal midgut volvulus. Approximately 10% of those with jejunal atresia will also be diagnosed with cystic fibrosis. Maternal vasoconstrictive medications, maternal cigarette smoking and maternal cocaine use may contribute to developing the disease.
The atresia may be detected by ultrasound before birth but the diagnosis must be confirmed after birth. Plain x-rays of the abdomen in patients with jejunal atresia show dilated segments of bowel filled with gas and liquid. A barium swallow, which is an x-ray test after the baby drinks liquid barium, may be used to assess the upper digestive tract and confirm the obstruction. An additional finding in some patients with jejunal atresia is a smaller than normal large bowel called a microcolon beyond the point of blockage. A barium enema can confirm the bowel obstruction and unused colon.
Surgery to repair the intestinal obstruction is performed as soon as possible after delivery. A section of the intestine including the atresia will be removed and the two ends will be sewn together. Food is given by a vein but not by mouth (parenteral nutrition) for a period of time before and after surgery until proper function of the intestine is established.
Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive.
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Jejunal atresia. Genetic and Rare Diseases Information Center. Last updated: 10/26/2016. https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia Accessed May 14, 2020.
Jejunal Atresia. Jejunal Atresia | Nicklaus Children’s Hospital. June 21, 2019. https://www.nicklauschildrens.org/conditions/jejunal-atresia. Accessed May 14, 2020.
Jejunal Atresia. Online Mendelian Inheritance in Man (OMIM). 03/11/2008. https://www.omim.org/entry/243600 Accessed May 14, 2020.
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