Duodenal atresia with familial apple peel syndrome: case study with review of literature

Abstract

This is a case report of a neonate who was antenatally diagnosed with jejunal atresia which turned out to be duodenal atresia with apple peel syndrome. A previous sibling, who also had apple peel but with jejunal atresia, succumbed to sepsis after surgery. The first sibling had jejunal stenosis and had died of sepsis following surgery. Combination of duodenal atresia with apple peel is extremely rare. This coupled with a familial condition is rarer still. This case was challenging due to the short length of the gut and prolonged need for total parenteral nutrition and sepsis in postoperative period.

Background

Duodenal atresia is the most common cause of intestinal obstruction in a newborn. Its incidence has been reported to be to the incidence of 1 in 5000–10 ,000 newborns. The aetiology is believed to be failure of vacuolisation.¹ It is known to be associated with a variety of congenital anomalies like Down’s syndrome, VACTERL (vertebral defects, anal atresia, cardiac defects,tracheo-esophageal fistula,renal anomalies, limb abnormalities) association, Fanconi’s anaemia, brachydactyly and microcephaly.² In contrast jejuno-ileal atresia is relatively rare and not commonly associated with other congenital anomalies. Apple peel small bowel is a variant of jejuno-ileal atresia, type IIIB. The aetiology is believed to be a vascular insult in the later weeks of gestation. The presence of both these conditions simultaneously in an individual is extremely rare. To the best of our knowledge, this is the tenth such reported case in literature. Also, familial incidence with apple peel in a previous sibling makes this case rarer still.

Case presentation

A 31-year-old woman with 35.1 weeks pregnancy, living in a small town was diagnosed with jejunal atresia and maternal polyhydramnios on antenatal sonography and came to our tertiary care centre for further management. There was a history of two previous babies having perished of sepsis following surgery for bowel obstruction. The first sibling was a 37 weeks male child delivered vaginally, with a birth weight of 2.5 kg. He was diagnosed with jejunal stenosis at 14th day of life and operated but succumed to sepsis. The second sibling was antenatally diagnosed with jejunal atresia. She was a spontaneous vaginal delivery at 35 weeks of life with birth weight of 1.6 kg and was operated on day 1 of life. She was found to have apple peel syndrome and succumbed on day 34 of life due to sepsis. Based on the imaging findings of prematurity in the current pregnancy, thewoman was given steroids for fetal lung maturity. She went into spontaneous labour at 35.6 weeks and was then taken for vaginal delivery after an artificial rupture of membranes. The male child born at 36 weeks weighed 2.25 kg. His Apgar Scores were 8/10 and 9/10 at 1 min and 5 min, respectively. Ryles tube inserted immediately after birth showed a 60 cc bilious aspirate. Plain X-ray abdomen done after instilling 60 mL of air through the Ryles tube revealed gaseous distention of stomach and duodenum with rest of the bowel shadows not visualised, suggesting duodenal or jejunal atresia. (figure 1) 2D echocardiogram was done to rule out any congenital heart defects or anamolies. It showed a 2 mm patent ductus arteriosus (PDS), 3 mm atrial septal defect (ASD) with left to right shunt. No ventricular septal defect (VSD) or coarctation of aorta was seen and the left ventricular ejection fraction was 60%. He was then taken to surgery on day 2 of life.

Figure 1.

X-ray of abdomen showing ‘double bubble’ suggestive of proximal bowel (jejunal) atresia.

Differential diagnosis

Jejunal atresia was our first differential diagnosis based on the family history.

Treatment

On exploration, he was found to have duodenal atresia in the third and fourth part of duodenum, and the proximal part was dilated and elongated (figure 2). The small bowel was short, measuring around 35 cm, and was wound around a thin vessel, branch of ileocolic artery. There was malrotation of the midgut, with cecum to the left of the duodenum (figure 3). Warm saline was injected with a 20 gauge needle into the blind end of the small bowel to flush the gut of meconium and to look for distal patency and to rule out multiple atresias. There was resistance to the injection when the saline reached terminal ileum due to thick inspissated bile stained meconium, which had to be gently milked down into the cecum. Ladd’s bands were released and the cecum was placed in the left hypochondriac region. A disc from the distal most part of the duodenum was excised in preparation for anastomosis. The dilated duodenum was plicated with 5–0 polyglactin sutures to reduce its calibre. The proximal dusky part of the jejunum was excised, and the jejunal end was anastomosed to the opening in the duodenum in an end to end fashion, using interrupted sutures of 5–0 polyglactin. A feeding jejunostomy was fashioned about 2.5 cm distal to the anastomosis over a 5 French feeding catheter. Postoperatively, on day of life 4–6, 5 mL of 10% dextrose were given through the jejunostomy tube at 3 mL/hour. Day of life 7 onwards expressed breast milk and formula milk powder dissolved in water was given at the rate of 2–3 mL/hour through an infusion pump. However the feeds were passed unaltered rectally. A 4 French 8 cm long double lumen central line was placed on day of life 4 in the right femoral vein, and total parenteral nutrition was initiated on day of life 5 and it was continued.

Figure 2.

Complete atresia of third and fourth part of duodenum with dilatation of proximal duodenum.

Figure 3.

Short small bowel (around 35 cm), wound around a thin vessel with malrotation of the midgut.

The jejunostomy feeding rate was later gradually increased to 35 mL/hour to facilitate weight gain but without success. The feeding catheter was replaced with a silastic tube on day of life 13. On day of life 14, the child became drowsy and apneic. The Ryles tube aspirate showed altered blood. The blood investigations revealed high levels of acute phase inflammatory markers (C reactive protein, 211.4) and low haemoglobin 7.2 g/L and platelet count of 21x10⁹/L. The central line was removed in view of the sepsis. He was given 40 mL of packed cell transfusion. The blood and central line tip culture grew Enterobacter cloacae complex and hence carbapenem, aminoglycosides and polymyxin group of antibiotics were started as per the sensitivity report. The jejunostomy tube slipped out on day of life 20. Hence central line was re-inserted on same day for giving parenteral nutrition in view of poor weight gain and continued high gastric aspirate. This line was again removed on day of life 30 in view of recurrent sepsis (C reactive protein 67.6, haemoglobin 9.6 g/L, total leucocyte counts 13.7x10⁹/L and platelet counts of 1.59x10⁹/L), and culture showed Candida tropicalis for which azole group of antifungals was initiated.

The bile aspiration showed no signs of decreasing even a month after surgery, although contrast injected in the stomach was seen distally. Suspecting subacute obstruction, an upper gastrointestinal (GI) endoscopy was done to see the anastomosis on the 37th postoperative day. However, only blind ending duodenum was seen, hence the baby was re-explored on the same day. The anastomotic site was found stuck to the under surface of liver. Adhesiolysis was done and thereafter the baby’s gastric aspirate gradually reduced and after 6 days of Ryles tube feeding the tube was removed and child was started on oral feeds from day of life 45. He continued to have minimal vomiting and poor weight gain. On day of life 49, he developed generalised anasarca and reduced urine output, and again a feeding tube had to be inserted orally and he was started on carbapenems for sepsis. On day of life 58, the child was shifted out of intensive care unit to premature unit where the feeding tube was removed, and he was gradually started on increasing amounts of oral feeds with breast milk and powdered milk formula. Calcium and multivitamin supplements were given, and also medium chain triglyceride oil was added to his feeds to improve weight gain. He was discharged on day of life 70.

Outcome and follow-up

At present, the child is nearly 2 years old and weighs only 11 kg. He does not suffer from recurrent respiratory or intestinal infections.

Discussion

Congenital intestinal atresias and stenoses are found to be the incidence of 0.7–0.8 per 10 000 live births.³ The cause of jejunoileal atresias is thought to be ischaemic insult during pregnancy. Duodenal atresias on the other hand are the most common cause of intestinal obstruction, its incidence being 1 in 5000–10 000 newborns. It is also very commonly associated with other congenital anomalies mainly congenital heart diseases and trisomy 21. As proposed by Tandler et al in 1900, the foregut undergoes a complete epithelial proliferation which causes the entire lumen to solidify and then it undergoes vacuolisation and recanalisation in the later weeks of gestation to form a lumen again. When this process of recanalisation fails, it leads to duodenal atresia.¹ Apple peel atresia accounts for approximately 5% of all intestinal atresia.⁴ It is thought to be a vascular accident to the superior mesenteric artery which causes majority of proximal small bowel to be atretic, and only ileum onwards is patent with the blood supply having been preserved through backflow from the ileocolic artery. The appearance is hence classical of small bowel arising from caecum configured like an apple peel around a central artery, also known as Christmas tree deformity or Maypole deformity.⁵ These two different embryonic aetiologies makes the presence of both pathologies simultaneously in one individual extremely rare. To date, only nine such cases have been published (table 1).^6–14 Two of these reports had a partial apple peel of the small bowel. This is the tenth such case to be reported. Rarer still is the familial presence of apple peel small bowel malformation. There have been a few reported cases of familial apple peel small bowel malformation.^15–22

Table 1.

Cases of duodenal atresia with apple peel small bowel malformation published until

	Age of gestation	Sex and weight	Anomalies	Outcome
Weber and Freeman6	36 weeks	F 2.1 kg	Loss of third and fourth parts of duodenum and proximal jejunum, apple peel atresia, absent SMA, DS, CHD.	Survived
Arbell et al 7	32 weeks operated on day 2	M 1.5 kg	Duodenal atresia, apple peel atresia of distal small bowel and choledochal cyst	Survived
Tetekawa et al 8	36 weeks	F 2.104 kg	Duodenal atresia, apple peel atresia and multiple intestinal atresias	Survived
Ahmad et al 9	34 weeks, operated on day 8	M 1.2 kg	Loss of third and fourth parts of duodenum, apple peel atresia, absent SMA.	Died
Patil et al 10	33 weeks, operated on day 8	F 1.6 kg	Duodenal atresia, apple peel atresia, malrotation	Died
Altokhais11	33 weeks, operated on day 2	M 1.9 kg	Duodenal atresia, apple peel atresia, malrotation	Survived
Alnosair et al 12	31 weeks	F 1.4 kg	Loss of third and fourth parts of duodenum, apple peel atresia, absent SMA.	Survived
Pathak and Narula13	33 weeks, preterm, operated on day 2	1.3 kg	Duodenal atresia, proximal 15 cm jejunum was apple peel, resection anastomosis done	Survived
Sasa et al 14	29 weeks, preterm, operated on day 2	M 1.24 kg	Loss of third and fourth parts of duodenum and proximal jejunum, apple peel atresia, absent SMA	Succumbed on third postoperative day

CHD, common hepatic duct; DS, duodenal stenosis; SMA, superior mesenteric artery

This anomaly has been reported to be autosomal recessive with a high chance of recurrence in subsequent siblings. But in the present case, the previous sibling had jejunal atresia with apple peel, and this baby has duodenal atresia with apple peel. The different embryogenic theories for both combined with an apple peel suggest that there might be a different mode of genetic transmission other than autosomal recessive.¹⁹ In this case we found bile stained meconium in the distal bowel which suggests that the intestinal atresia occurred after the third month of gestation and points more towards a major vascular insult later in gestation. The prognosis of patients with apple peel small bowel malformation is good but there is a high risk of recurrent obstruction, usually at the anastomotic site and most often occurring within the first year of life.²³ In this case also, we had to re-explore the baby on the 37th postoperative day in view of sub-acute obstruction. The anastomotic site was found to be adhered to the under surface of the liver which might suggest a possible leak. The postoperative period of these neonates is usually fraught with sepsis and failure to thrive due to the short gut and malabsorption. In developing countries, the mortality rate is higher as these neonates are mostly preterm with low birth weight. Even in this case, the previous two siblings were preterm with low birth weight and died due to sepsis. The prolonged postoperative course, sepsis and non-availability of parenteral nutrition in some centres, further compounds the problem. However, after discharge these babies are known to survive albeit with problems of short bowel and malabsorption which are seen to improve over a period of time. The chromosomal analysis of the child was found to be normal but the parents were reluctant to do it for themselves as it was very costly and would not have changed the management and outcome of this child. The chance of one in four recurrence in future siblings has been explained to the parents. Importance of early diagnosis with prompt surgical and critical care cannot be emphasised enough.

Learning points.

• This case was reported on account of the rarity of the familial incidence of apple peel and the rarity of a combined duodenal atresia with an apple peel small bowel malformation.

• More research is needed to find out the exact mode of genetic transmission of this anomaly but the cost and availability is a big constraint.

• Also the genetic testing though highly beneficial to us as clinicians, will not change the management and outcome of this patient, hence his parents were reluctant to do it for themselves. But to study such rare diseases there should be some association of researchers who can make genetic testing feasible and affordable for such patients.