Jejunal Atresia

Alternative Names

  • Apple Peel Syndrome
  • Apple Peel Small Bowel Syndrome
  • APSB
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

OMIM Number

243600

Mode of Inheritance

Autosomal recessive

Description

Jejunal atresia is a rare autosomal recessive genetic disorder. Individuals with this disorder are born with a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen. As a result, one of the three portions of the jejunum twists around the marginal artery of the colon and causes an atresia. Symptoms in this disorder include vomiting, a swollen abdomen, and constipation. Jejunal atresia may be classified into 5 types according to anatomic appearance: type I (mucosal web), type II (ends separated by a fibrous cord), type IIIa (ends separated by a V-shaped mesenteric defect), type IIIb ('apple peel' deformity), and type IV (multiple atresias). Type IIIb most commonly shows familial occurrence, although familial cases of types I, II, and IV have also been observed.

Worldwide data on the incidence of jejunal atresia is not available. However, the incidence of jejunal atresia at birth in The Netherlands is estimated to be 1 in 14,000.

Epidemiology in the Arab World

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Other Reports

Arab

In 1981, Andrews and Stem reported a 48-hour-old Arab female neonate with jejunal atresia. The newborn neonate presented with small bowel obstruction, upper abdominal distention, and bile stained vomitus. A jejunal web was removed during surgery and jejunoplasty preformed. Since discharge from the hospital, the baby gained weight and had no further problems.

[Andrews EC, Stem JM. Jejunal atresia: A case report and review of literature. Emirates Med J 1981; 2:103-5.]

Kuwait

[See: Palestine > Farag and Teebi, 1989; Farag et al., 1993].

Lebanon

Mishalany and Najjar (1968) reported three affected Lebanese sibs with characteristic morphological configuration of "Apple Peel" syndrome. Parents were first cousins. The three sibs died after surgical intervention. A fourth patient died at home with congenital high intestinal obstruction, bringing the number to 4 affected out of 18 offspring in this family.

Oman

Weber and Freeman (1999) reported duodenojejunal atresia with apple peel configuration of the ileum and absence of the superior mesenteric artery in a baby of consanguineous parents, who was born with typical features of Down syndrome. He was born to a 38 years old mother who had four deaths of unknown causes among her children, two preterm babies died within the first two days and the other two died at the ages of six and 20 days. By antenatal scan, this baby was noticed to have a distended stomach and duodenum with double bubble sign, and polyhydramnios. At birth, he had features of Down syndrome with a small ventricular septal defect (VSD). Intestinal obstruction was suspected, and a plain abdominal X-ray was done, which showed a dilated stomach, and air in the hepatobiliary tract with no air beyond the duodenum. Laprotomy was done on day three of life, which revealed a dilated duodenum with absent third and fourth parts as well as an absent jejunum, annular pancreas, non-ischemic hypoplastic small bowel with a typical apple peel configuration around a single marginal artery (fed retrogradly from the left colic artery) which supplied the remaining ileum and the colon. A large mesenteric gap between the duodenum and jejunal remnants was seen due to the absence of the superior mesenteric artery which was found as a blind ended stump. The duodenum was then anastamosed end-to-end to the hypoplastic jejunum. Postoperatively, the baby was kept on parenteral feeding for one week with introduction of oral feeds by day six, and was discharged home on day 23 on breast milk with a weight of two kg and mild failure to thrive due to the VSD. Histological examination revealed calcifications of the serosal aspect of the atretic bowel segment and of the mesentery, consistent with resolved meconium peritonitis. Weber and Freeman (1999) suggested that double vascular accident (absence of the superior mesenteric artery and the possible occlusion of the arterial blood supply to the distal pancreaticoduodenal arcade by the annular pancreas), might be the reason for this baby's duodenal atresia.

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in years 1993 to 2002. The study revealed that apple peel bowel syndrome was diagnosed in 21 patients, with an observed incidence of 1 in 20,000 births.

Palestine

Farag and Teebi (1989) reported two cases of apple peel jejunal atresia in two Palestinian sibs living in Kuwait. Case 1 represented an infant male born with a birth weight of 2800g following an uneventful term pregnancy, he was the first child born to phenotypically normal and distantly related Palestinian parents. The subject appeared normal at birth, but nine hours later he demonstrated symptoms of intestinal obstruction. Laparotomy was employed and demonstrated upper jejunal atresia measuring 7cm from the duodenojejunal flexure, a mesenteric gap, an absent superior mesenteric artery, the small bowel coiled around a branch of the ileocolic artery, and the presence of mesenteric cyst. The subject underwent an operation after which he passed away 60 days later. Case 2 represented a male sib born after 36 weeks gestation with a birth weight of 2250g. Upon ultrasonographic examination in utero, it was believed that the subject suffered from bowel atresia and, therefore, laparotomy was performed few hours after birth. The test showed jejunal atresia measuring 10cm from the duodenojejunal flexure and a corresponding V shaped mesenteric artery with small bowel loops coiled around a branch from the ileocolic artery with a classical apple peel pattern. The subject underwent an operation after which he passed away 30 days later. The sibs' parents chose to have another child regardless of the high recurrence risk which was calculated as 1 in 4. Later, Farag et al. (1993) reported an Arab family with four siblings experiencing clinical, morphological and roentographic symptoms of jejunal atresia with apple peel variant in Kuwait. The first two affected siblings were reported previously by Farag and Teebi (1989). Regardless of the high recurrence risk, the mother gave birth to two more affected children. Case 3 represented a female weighing 2160g and she was believed to suffer from similar congenital small bowel obstruction which was revealed through a plain abdominal X-ray. Laparatomy was employed and demonstrated jejuna atresia with "apple peel" variant. The subject underwent resection anastomosis and passed away 40 days post operation. Case 4 represented a male weighing 2680g and he was born after the birth of a phenotypically normal girl and one early natural abortion. Abdominal X-ray was performed and revealed the same diagnosis. The subject underwent an operation and a laparotomy which revealed upper jejunal atresia; gangrene of the rest of the small gut with 5x2.5x1 cm mass confirmed to be intrauterine volvulus through histopathological examinations. The subject underwent resection anastomosis after which he passed away 67 days later. Upon studying two Arab families affected with Apple Peel Syndrome (APS), Farag et al. (1993) confirmed that the disease follows an autosomal recessive mode of inheritance.

Saudi Arabia

Al-Awadi et al. (1981) reported two siblings who possibly had familial jejunal atresia. The parents were first cousins and had a third healthy offspring. The first child had jejunal atresia with mesenteric agenesis and 'apple-peel' configuration (type IIIB). The second child had jejunal atresia with a V-shaped mesenteric defect (type IIIA). The two sibs died after surgical intervention.

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