Information on the following diseases can be found in the Related Disorders section of this report:

• Duodenal Atresia
• Multiple Intestinal Atresia

Jejunal Atresia is a birth defect in which the fold of the stomach membrane needed to connect the small intestine to the back wall of the abdomen is, in part, absent. As a result, a portion of the small intestine (the jejunal) twists about one of the arteries to the colon. This twisting may be so severe that the artery in question is completely blocked (atrasia). It is sometimes compared to an apple peel in appearance.

Symptoms of Jejunal Atresia may be: vomiting a bitter, yellow-green secretion of the liver (bile); an expanded or swollen upper middle part of the abdomen just below the breastbone (epigastric distension); and an absence of stools after birth.

Jejunal Atresia may be inherited as an autosomal recessive trait, or it may occur sporadically with no known cause. 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.

Jejunal Atresia is a very rare disorder that affects males and females in equal numbers. There have been approximately 57 cases reported in the medical literature.

Symptoms of the following disorders can be similar to those of Jejunal Atresia. Comparisons may be useful for a differential diagnosis:

Duodenal Atresia is a rare disorder in which there is a blockage of the normal opening or canal (atresia) in the first division of the small intestine (duodenum). There are three types of duodenal atresia. The first division of the small intestine (duodenum) may have a discrepancy in size from one end to the other, the two ends of the duodenum may be connected by a short chord made of fiber-like tissue or there is no chord connecting the blind ends. This malformation in the small intestine causes eighty percent of the patients to vomit a bitter, yellow-green secretion of the liver (bile). Other symptoms of this disorder may be: a swollen upper abdomen; a yellowish coloring of the skin (jaundice); and/or in the pregnant mother of an affected child, an abnormal condition in which there is an excess of fluid around the fetus. The obstruction can be repaired with surgery.

Multiple Intestinal Atresia is a rare disorder in which there are multiple areas of the intestines in which there is an absence of a normal opening or space which causes an intestinal blockage. The atresias typically involve the shortest, widest part of the small intestine that joins the stomach (duodenum), one of the three portions of the small intestine that connects with the duodenum (jejunum), or the portion of the small intestine that opens into the large intestine (ileum), and the rectum. Infants born with this condition vomit continually, have swelling just below the breast bone, a hallow or boat shaped abdomen (scaphoid abdomen), and an empty anal canal. In some cases this disorder may be inherited through an autosomal recessive trait.

Jejunal Atresia can be determined prenatally by testing the amniotic fluid. This procedure is suggested in cases when a sibling has been born with the disorder.

Surgery, to repair the intestinal obstruction, is performed as soon as possible after delivery. Parenteral nutrition (food given by a vein or directly to the stomach, but not by mouth) is given for a period of time.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why that sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

TEXTBOOKS
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM), Baltimore, MD: Johns Hopkins University Press; Entry No: 243600. Creation Date: 6/3/86. Last Edit Date: 11/9/98.

Buyse ML. ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: Center for Birth Defects Information Services, Inc; 1990:993-4.

REVIEW ARTICLE
Lambrecht W, et al., Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature. J Pediatr Surg. 1998;33:794-97.


JOURNAL ARTICLES
Masumoto K, et al., Abnormalities of enteric neurons, intestinal pacemaker cells, and smooth muscle in human intestinal atresia. J Pediatr Surg. 1999;34:1463-68.

Al-Salem AH, et al., Pyloric atresia associated with duodenal and jejunal atresia and duplication. Pediatr Surg Int. 1999;15:512-14.

Tam PK, et al., Implications of antenatal diagnosis of small-intestinal atresia in the 1990s. Pediatr Surg Int. 1999;15:486-87.

Flageole H, et al., The Bianchi procedure in a patient with jejunal atresia. Eur J Pediatr Surg. 1997;7:361-63.

Collins JH, et al., Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects. Pediatrics 1987;80:540-4.

Olson LM, et al., Identical twins with malrotation and type IV jejunal atresia. J Pediatr Surg 1987; 22:1015-6.

Ahlgren LS, Apple peel jejunal atresia. J Pediatr Surg 1987; 22:451-3.

INTERNET:

http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=6799