Jejunoileal atresia is incomplete formation of part of the small intestine. Diagnosis is by abdominal x-ray. Treatment is surgical repair.
(See also Overview of Congenital Gastrointestinal Anomalies.)
Neonates with jejunoileal atresia usually present late during day 1 or on day 2 with increasing abdominal distention, failure to pass stools, emesis, and feeding problems. A history of polyhydramnios is common.
Etiology of Jejunoileal Atresia
Jejunoileal atresias occur as a result of an ischemic insult during pregnancy. The ischemic insult can be due to intussusception, perforation, volvulus, intestinal strangulation via a hernia, or thromboembolism. Maternal smoking and cocaine use have been associated with intestinal atresia. There is an estimated incidence of about 1 in 10,000 live births. This disorder affects both sexes equally. Jejunoileal atresias are equally distributed between the jejunum and ileum (1).
Associated congenital anomalies are less common with jejunoileal atresia than duodenal atresia. The most common associated conditions are cystic fibrosis, malrotation, and gastroschisis, each of which is present in approximately 10% of cases. Peritoneal calcifications suggest the presence of meconium peritonitis, which is a sign of intrauterine intestinal perforation and can be seen in approximately 10% of cases. The presence of meconium peritonitis should raise suspicion of meconium ileus and cystic fibrosis (1).
Etiology reference
1. Morris G, Kennedy A Jr, Cochran W: Small bowel congenital anomalies: A review and update. Curr Gastroenterol Rep 18(4):16, 2016. doi: 10.1007/s11894-016-0490-4
Classification of Jejunoileal Atresia
There are 5 major types of jejunoileal atresia:
Type I consists of a membrane completely occluding the lumen with the intestine intact.
Type II is a gap in the intestine with a fibrous cord between the proximal and distal segments of intestine.
Type IIIA is a mesenteric gap without any connection between the segments.
Type IIIB is jejunal atresia with absence of the distal superior mesenteric artery; the distal small bowel is coiled like an apple peel, and the gut is short.
Type IV consists of multiple atretic segments (resembling a string of sausages).
Diagnosis of Jejunoileal Atresia
Abdominal x-ray
A plain abdominal x-ray is done; it may reveal dilated loops of small bowel with air-fluid levels and a paucity of air in the colon and rectum. A barium enema reveals a microcolon (due to disuse).
Because approximately 10% of patients also have cystic fibrosis (nearly 100% if meconium ileus is also present), testing for cystic fibrosis should be done (1).
Diagnosis reference
1. Roberts HE, Cragan JD, Cono J, et al: Increased frequency of cystic fibrosis among infants with jejunoileal atresia. Am J Med Genet 78(5):446-449, 1998. doi:10.1002/(sici)1096-8628(19980806)78:5<446::aid-ajmg9>3.0.co;2-j
Treatment of Jejunoileal Atresia
Surgical repair
Preoperative management of jejunoileal atresia consists of placing a nasogastric tube, giving nothing by mouth, and providing IV fluids.
Surgical repair is the definitive therapy. During surgery, the entire intestine should be inspected for multiple areas of atresia. The atretic portion is resected, usually with a primary anastomosis. If the proximal portion of the ileum is extremely dilated and difficult to anastomose to the distal, unused part of the intestine, it is sometimes safer to do a double-barreled ileostomy and defer anastomosis until the caliber of the distended proximal intestine has diminished. A procedure that tapers the dilated proximal loop is also a consideration (1).
The prognosis for infants with jejunoileal atresia is very good with > 90% survival. Prognosis is based on the length of remaining small bowel and the presence of the ileocecal valve. Infants who subsequently develop short bowel syndrome require total parenteral nutrition (TPN) for extended periods. They should be provided continuous enteral feedings to promote gut adaptation, maximize absorption, and minimize the use of TPN. Infants should also be provided small amounts of nutrition by mouth to maintain sucking and swallowing. Prognosis for infants with ultrashort bowel syndrome has improved significantly because of newer surgical techniques including bowel-lengthening procedures (eg, serial transverse enteroplasty procedure or STEP), improved medical care, and the ability to do small bowel transplantation (2, 3, 4).
Treatment references
1. Dewberry LC, Hilton SA, Vuille-Dit-Bille RN, Liechty KW: Is tapering enteroplasty an alternative to resection of dilated bowel in small intestinal atresia? J Surg Res 246:1–5, 2020. doi: 10.1016/j.jss.2019.08.014
2. Pandey A, Singh G, Shandilya G, et al: Role of Bishop–Koop procedure for jejunal and proximal ileal atresia. J Neonatal Surg 8(4):31, 2020. doi: 10.47338/jns.v8.356
3. Batra A, Keys SC, Johnson MJ, et al: Epidemiology, management and outcome of ultrashort bowel syndrome in infancy. Arch Dis Child Fetal Neonatal Ed 102(6):F551–F556, 2017. doi: 10.1136/archdischild-2016-311765
4. Squires RH, Duggan C, Teitelbaum DH, et al: Natural history of pediatric intestinal failure: Initial report from the Pediatric Intestinal Failure Consortium. J Pediatr 161:723–728, 2012. doi: 10.1016/j.jpeds.2012.03.062
Key Points
Jejunoileal atresia usually manifests in the first day or two of life with signs of bowel obstruction.
Cystic fibrosis, malrotation, and gastroschisis are each present in approximately 10% of cases.
Give nothing by mouth and provide nasogastric tube suction and IV fluids pending surgical repair.
