44 Case Report
Cystic Fibrosis as a Rare Cause of Apple Peel Syndrome
Authors
I. J. Broekaert, S. van Koningsbruggen-Rietschel, E. Rietschel
Affiliation
Pediatric Pulmonary, Children’s University Hospital Cologne, Germany
Key words ▶ absence of mesentery ● ▶ F508del mutation ● ▶ intestinal atresia ● ▶ meconium ileus ● ▶ microcephaly ● ▶ ocular anomalies ●
Abstract
Zusammenfassung
Apple peel atresia is a special form of intestinal atresia with absence of mesentery. It is most likely due to an intrauterine intestinal vascular accident and has been described with other anomalies. Meconium ileus can compromise blood supply causing intestinal atresia. Therefore, cystic fibrosis needs to be ruled out in apple peel syndrome.
Die ‚Apple-Peel‘-Atresie ist eine Sonderform der Dünndarmatresie mit einer Mesenteriallücke. Sie wird am ehesten durch einen intrauterinen intestinalen Gefäßverschluss verursacht und ist beschrieben worden mit weiteren Anomalien. Ein Mekoniumileus kann die Blutversorgung beeinträchtigen, welcher eine Dünndarmatresie verursachen kann. Deshalb sollte beim Vorliegen eines ‚Apple-Peel‘-Syndroms eine Mukoviszidose ausgeschlossen werden.
Case report
of small bowel was altered according to apple ▶ Fig. 2). No further intestinal peel syndrome (● atresia was found. Furthermore, there were neither signs of bowel necrosis nor perforation macroscopically and on histology. Resection of 10 cm of small bowel was performed and a double lumen jejunostomy was placed. Postoperative course was complicated by difficult weight gain, bloating, and thin stools managed with parenteral nutrition and a diet rich in medium chain triglycerides. There were no signs of cholestasis under parenteral nutrition. At 4 weeks of age, the jejunostomy was revised because of persistent prolapsing and invagination of proximal small bowel. Coagulation abnormalities were corrected by administration of oral vitamin K. At 6 weeks of age, the jejunostomy was removed and the small intestine was re-anastomosed. Postoperatively, the child presented with increasingly distended abdomen and difficult passage of stools. On small bowel follow through there were no signs of obstruction or stenosis. At 2 months of age, the child was discharged home on iron, vitamin D 500 IE/fluoride and oral antibiotic treatment because of elevated inflammatory markers likely due to a central line infection. At the age of 6 months, the child presented with non-bilious vomiting, constipation, passage of
Schlüsselwörter ▶ fehlendes Mesenterium ● ▶ F508del-Mutation ● ▶ Dünndarmatresie ● ▶ Mekoniumileus ● ▶ Mikrozephalie ● ▶ Augenerkrankung ●
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▼
Bibliography DOI http://dx.doi.org/ 10.1055/s-0033-1358675 Published online: January 16, 2014 Klin Padiatr 2014; 226: 44–46 © Georg Thieme Verlag KG Stuttgart · New York ISSN 0300-8630 Correspondence Dr. Ilse Julia Broekaert Pediatric Pulmonary Children’s University Hospital Cologne Kerpener Straße 211 50937 Cologne Germany Tel.: + 49/221/478 6083 Fax: + 49/221/478 3507 [email protected]
Apple peel syndrome is a rare cause of intestinal atresia most often diagnosed in neonates. We report a female infant (birth weight 3 230 g, length 52 cm, head circumference 34 cm (25th percentile)) born to a 24-year-old mother of Russian descent and a father from Kirgizstan after a 38-week pregnancy. Pregnancy was complicated by polyhydramnios. No family history of gastrointestinal malformations was noted. At birth, the child presented with a distended abdomen and absent bowel sounds, and lots of bilious fluid could be suctioned by gastric tube. Postnatal ultrasound revealed massively dilated bowel loops (up to 3 cm) in the left upper and midabdomen and a convolute of small caliber intestinal loops in the right upper abdomen. Abdominal X-ray demonstrated 2 dilated small bowel loops and sparse gas in the remaining bowel was seen. On small bowel follow through, findings were consistent with distal small intestinal atresia and ▶ Fig. 1). Neither microsmall non-used colon (● cephaly nor ocular abnormalities were present. Surgery revealed an atretic small bowel lumen at 40 cm from the ligament of Treitz and a coprolith located in the distally blind ending intestine. The distal 30 cm of the remaining postatretic 120 cm
Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
▼
Downloaded by: University of Queensland. Copyrighted material.
Mukoviszidose als seltene Ursache eines ‚Apple-Peel‘-Syndroms
Case Report 45 Discussion
Fig. 1 Small bowel follow through and barium enema revealing proximal dilated small bowel and distal apple peel as well as small non-used colon.
Fig. 2 Schematic picture showing intestinal atresia with absence of mesentery (apple peel syndrome).
viscous mucous stools, bloated abdomen, unsatisfactory weight gain, increased lipase, and hypoechogenicity of the liver on ultrasound. Liver function tests remained within range of normal. The patient showed moderate Vitamin D (16.3 ng/ml) and Vitamin A (9.3 ug/dl) deficiency, but normal Vitamin E levels, and no coagulation abnormalities. Diagnosis of cystic fibrosis was suspected and confirmed by two abnormal sweat-tests (twice 95 mmol/l chloride). Genetic testing demonstrated a homozygous F508del (new nomenclature: c.1521_1523delCTT) mutation. No coagulation abnormalities (including factor V Leiden and prothrombin gene mutations) were found. Exocrine pancreatic insufficiency was diagnosed by undetectable fecal elastase. The child is thriving well after initiation of pancreatic enzyme replacement therapy.
Apple peel syndrome, as first described by Santulli and Blanc, is defined as jejunal atresia associated with absence of gross parts of the mesentery and variable large parts of the small intestine [11]. The preserved terminal ileum has a characteristic helical appearance. Apple peel atresia constitutes approximately 10 % of all small bowel atresias with a slight female predominance; other associated factors are prematurity and low birth weight [5]. Long-term follow-up has shown excellent outcome with normal bowel function, growth, and development [5]. Normal development of the mid gut requires 2 independent processes, the adequate formation of blood supply and of the intestinal tube. If the blood vessel formation is defective, the bowel may outgrow its blood supply as it widens and lengthens with subsequent necrosis and absorption of the affected segment [11]. Most cases of intestinal atresia have been ascribed to ‘in utero vascular accidents’ [7]. The absence of the superior mesenteric artery and the dorsal mesentery confirm a vascular origin in apple peel syndrome [1]. Possible mechanisms of mesenteric disruption include acute vascular occlusion, embolism, local thrombosis, arteriitis, intussusception, and volvulus due to intestinal malrotation during the fetal period [12]. Also gastroschisis with pressure of the intestine on the defective abdominal wall can cause jejunoileal atresia [9, 16]. Furthermore, in a rat model adriamycin, inducing cytogenetic abnormalities, can cause intestinal atresia [3]. The lack of associated anomalies suggests that these events occur late and thus are acquired rather than true embryonal malformations [12]. In cystic fibrosis, intestinal dilatation caused by meconium ileus or even prenatal volvulus of the meconium-distended small intestine may lead to ischemic necrosis, intestinal atresia, or perforation [4]. Several studies have reported an increased frequency (8–12 % ) of cystic fibrosis in surgical patients with jejunoileal atresia [9, 10, 13, 15]. Roberts et al. showed that Caucasian infants with jejunoileal atresia have an observer to expected (O/E) ratio for cystic fibrosis of more than 210 times compared with Caucasian infants in the general population based on population-based data [10]. In our patient, signs of intestinal malabsorption were already present shortly after birth, they were, however, attributed to intestinal atresia and interpreted as surgical complications. Therefore, in all neonates presenting with jejunoileal atresia cystic fibrosis should be ruled out by early pilocarpin iontophoresis. Cystic fibrosis patients presenting with meconium ileus, possibly complicated by perforation, have a significantly higher occurrence of homozygous F508del mutation and compound heterozygous F508del/G542X mutation, whereas compound heterozygous F508del/G551D and F508del/R117H mutations are associated with a lower incidence in meconium ileus [6]. Our patient is homozygous for the F508del mutation. 79 % of cystic fibrosis patients with at least one F508del mutation have predominant abdominal symptoms postpartum including meconium ileus rather than pulmonary symptoms [4]. However, a small number of patients with apple peel syndrome presents with microcephaly and ocular anomalies such as anterior segment anomalies of the eye or corneal leukoma [1, 14, 17]. In these cases, early recognition is important because serious visual impairment may develop. One case of apple peel intestinal atresia combined with microcephaly has been described with multiple variable aneuploidy [2]. Also familial occurrence has been reported suggesting a hereditary component with Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
Downloaded by: University of Queensland. Copyrighted material.
▼
transmission of an autosomal recessive gene [8]. However, a specific genetic defect responsible for apple peel syndrome associated with microcephaly and ocular anomalies has not been identified. Our observation suggests that cystic fibrosis is a risk factor for intestinal atresia and apple peel syndrome. Especially patients with a homozygous F508del mutation, like our patient, or a compound heterozygous F508del/G542X mutation may have predominantly abdominal symptoms early in life. Apple peel syndrome is most likely due to an intrauterine vascular accident of the intestine. In cystic fibrosis, meconium ileus can compromise blood supply of the intestine causing intestinal atresia. Therefore, cystic fibrosis should always be ruled out in apple peel syndrome, especially if there are no associated malformations such as microcephaly or ocular abnormalities, and if there is no intestinal malrotation.
Conflict of interest: The authors have no conflict of interest to disclose. References 1 Bellini C, Mazzella M, Arioni C et al. „Apple-peel“ intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am J Med Genet 2002; 110: 176–178 2 Bower KL, Dennis NR, Wellesley D et al. New case of „apple-peel“ intestinal atresia and ocular anomalies with mosaic variegated aneuploidy. Am J Med Genet 2003; 117A: 200–201 3 Diez-Pardo JA, Baoquan Q, Navarro C et al. A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Surg 1996; 31: 498–502 4 Escobar MA, Grosfeld JL, Burdick JJ et al. Surgical considerations in cystic fibrosis: a 32-year evaluation of outcomes. Surgery 2005; 138: 560–571 discussion 571–572
Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
5 Festen S, Brevoord JC, Goldhoorn GA et al. Excellent long-term outcome for survivors of apple peel atresia. J Pediatr Surg 2002; 37: 61–65 6 Gorter RR, Karimi A, Sleeboom C et al. Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. J Pediatr Gastroenterol Nutr 2010; 50: 569–572 7 Louw JH, Barnard CN. Congenital intestinal atresia; observations on its origin. Lancet 1955; 269: 1065–1067 8 Pumberger W, Birnbacher R, Pomberger G et al. Duodeno-jejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery: a hereditary compound structure in duodenal atresia? Am J Med Genet 2002; 109: 52–55 9 Rescorla FJ, Grosfeld JL. Intestinal atresia and stenosis: Analysis of survival in 120 cases. Surgery 1985; 98: 668–676 10 Roberts HE, Cragan JD, Cono J et al. Increased frequency of cystic fibrosis among infants with jejunoileal atresia. Am J Med Genet 1998; 78: 446–449 11 Santulli TV, Blanc WA. Congenital atresia of the intestine. Pathogenesis and treatment. Ann Surg 1961; 154: 939–948 12 Shorter NA, Georges A, Perenyi A et al. A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia. J Pediatr Surg 2006; 41: 1822–1825 13 Siersma CL, Rottier BL, Hulscher JB et al. Jejunoileal atresia and cystic fibrosis: don’t miss it. BMC Res Notes 2012; 5: 677 14 Slee J, Goldblatt J. Further evidence for a syndrome of “apple peel” intestinal atresia, ocular anomalies and microcephaly. Clin Genet 1996; 50: 260–262 15 Stollman TH, Wijnen RM, Draaisma JM. Investigation for cystic fibrosis in infants with jejunoileal atresia in the Netherlands: a 35-year experience with 114 cases. Eur J Pediatr 2007; 166: 989–990 16 Sweeney B, Surana R, Puri P. Jejunoileal atresia and associated malformations: correlation with the timing of in utero insult. J Pediatr Surg 2001; 36: 774–776 17 van Bever Y, van Hest L, Wolfs R et al. Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. Am J Med Genet A 2008; 146A: 500–504
Downloaded by: University of Queensland. Copyrighted material.
46 Case Report
Cystic Fibrosis as a Rare Cause of Apple Peel Syndrome
Authors
I. J. Broekaert, S. van Koningsbruggen-Rietschel, E. Rietschel
Affiliation
Pediatric Pulmonary, Children’s University Hospital Cologne, Germany
Key words ▶ absence of mesentery ● ▶ F508del mutation ● ▶ intestinal atresia ● ▶ meconium ileus ● ▶ microcephaly ● ▶ ocular anomalies ●
Abstract
Zusammenfassung
Apple peel atresia is a special form of intestinal atresia with absence of mesentery. It is most likely due to an intrauterine intestinal vascular accident and has been described with other anomalies. Meconium ileus can compromise blood supply causing intestinal atresia. Therefore, cystic fibrosis needs to be ruled out in apple peel syndrome.
Die ‚Apple-Peel‘-Atresie ist eine Sonderform der Dünndarmatresie mit einer Mesenteriallücke. Sie wird am ehesten durch einen intrauterinen intestinalen Gefäßverschluss verursacht und ist beschrieben worden mit weiteren Anomalien. Ein Mekoniumileus kann die Blutversorgung beeinträchtigen, welcher eine Dünndarmatresie verursachen kann. Deshalb sollte beim Vorliegen eines ‚Apple-Peel‘-Syndroms eine Mukoviszidose ausgeschlossen werden.
Case report
of small bowel was altered according to apple ▶ Fig. 2). No further intestinal peel syndrome (● atresia was found. Furthermore, there were neither signs of bowel necrosis nor perforation macroscopically and on histology. Resection of 10 cm of small bowel was performed and a double lumen jejunostomy was placed. Postoperative course was complicated by difficult weight gain, bloating, and thin stools managed with parenteral nutrition and a diet rich in medium chain triglycerides. There were no signs of cholestasis under parenteral nutrition. At 4 weeks of age, the jejunostomy was revised because of persistent prolapsing and invagination of proximal small bowel. Coagulation abnormalities were corrected by administration of oral vitamin K. At 6 weeks of age, the jejunostomy was removed and the small intestine was re-anastomosed. Postoperatively, the child presented with increasingly distended abdomen and difficult passage of stools. On small bowel follow through there were no signs of obstruction or stenosis. At 2 months of age, the child was discharged home on iron, vitamin D 500 IE/fluoride and oral antibiotic treatment because of elevated inflammatory markers likely due to a central line infection. At the age of 6 months, the child presented with non-bilious vomiting, constipation, passage of
Schlüsselwörter ▶ fehlendes Mesenterium ● ▶ F508del-Mutation ● ▶ Dünndarmatresie ● ▶ Mekoniumileus ● ▶ Mikrozephalie ● ▶ Augenerkrankung ●
▼
▼
Bibliography DOI http://dx.doi.org/ 10.1055/s-0033-1358675 Published online: January 16, 2014 Klin Padiatr 2014; 226: 44–46 © Georg Thieme Verlag KG Stuttgart · New York ISSN 0300-8630 Correspondence Dr. Ilse Julia Broekaert Pediatric Pulmonary Children’s University Hospital Cologne Kerpener Straße 211 50937 Cologne Germany Tel.: + 49/221/478 6083 Fax: + 49/221/478 3507 [email protected]
Apple peel syndrome is a rare cause of intestinal atresia most often diagnosed in neonates. We report a female infant (birth weight 3 230 g, length 52 cm, head circumference 34 cm (25th percentile)) born to a 24-year-old mother of Russian descent and a father from Kirgizstan after a 38-week pregnancy. Pregnancy was complicated by polyhydramnios. No family history of gastrointestinal malformations was noted. At birth, the child presented with a distended abdomen and absent bowel sounds, and lots of bilious fluid could be suctioned by gastric tube. Postnatal ultrasound revealed massively dilated bowel loops (up to 3 cm) in the left upper and midabdomen and a convolute of small caliber intestinal loops in the right upper abdomen. Abdominal X-ray demonstrated 2 dilated small bowel loops and sparse gas in the remaining bowel was seen. On small bowel follow through, findings were consistent with distal small intestinal atresia and ▶ Fig. 1). Neither microsmall non-used colon (● cephaly nor ocular abnormalities were present. Surgery revealed an atretic small bowel lumen at 40 cm from the ligament of Treitz and a coprolith located in the distally blind ending intestine. The distal 30 cm of the remaining postatretic 120 cm
Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
▼
Downloaded by: University of Queensland. Copyrighted material.
Mukoviszidose als seltene Ursache eines ‚Apple-Peel‘-Syndroms
Case Report 45 Discussion
Fig. 1 Small bowel follow through and barium enema revealing proximal dilated small bowel and distal apple peel as well as small non-used colon.
Fig. 2 Schematic picture showing intestinal atresia with absence of mesentery (apple peel syndrome).
viscous mucous stools, bloated abdomen, unsatisfactory weight gain, increased lipase, and hypoechogenicity of the liver on ultrasound. Liver function tests remained within range of normal. The patient showed moderate Vitamin D (16.3 ng/ml) and Vitamin A (9.3 ug/dl) deficiency, but normal Vitamin E levels, and no coagulation abnormalities. Diagnosis of cystic fibrosis was suspected and confirmed by two abnormal sweat-tests (twice 95 mmol/l chloride). Genetic testing demonstrated a homozygous F508del (new nomenclature: c.1521_1523delCTT) mutation. No coagulation abnormalities (including factor V Leiden and prothrombin gene mutations) were found. Exocrine pancreatic insufficiency was diagnosed by undetectable fecal elastase. The child is thriving well after initiation of pancreatic enzyme replacement therapy.
Apple peel syndrome, as first described by Santulli and Blanc, is defined as jejunal atresia associated with absence of gross parts of the mesentery and variable large parts of the small intestine [11]. The preserved terminal ileum has a characteristic helical appearance. Apple peel atresia constitutes approximately 10 % of all small bowel atresias with a slight female predominance; other associated factors are prematurity and low birth weight [5]. Long-term follow-up has shown excellent outcome with normal bowel function, growth, and development [5]. Normal development of the mid gut requires 2 independent processes, the adequate formation of blood supply and of the intestinal tube. If the blood vessel formation is defective, the bowel may outgrow its blood supply as it widens and lengthens with subsequent necrosis and absorption of the affected segment [11]. Most cases of intestinal atresia have been ascribed to ‘in utero vascular accidents’ [7]. The absence of the superior mesenteric artery and the dorsal mesentery confirm a vascular origin in apple peel syndrome [1]. Possible mechanisms of mesenteric disruption include acute vascular occlusion, embolism, local thrombosis, arteriitis, intussusception, and volvulus due to intestinal malrotation during the fetal period [12]. Also gastroschisis with pressure of the intestine on the defective abdominal wall can cause jejunoileal atresia [9, 16]. Furthermore, in a rat model adriamycin, inducing cytogenetic abnormalities, can cause intestinal atresia [3]. The lack of associated anomalies suggests that these events occur late and thus are acquired rather than true embryonal malformations [12]. In cystic fibrosis, intestinal dilatation caused by meconium ileus or even prenatal volvulus of the meconium-distended small intestine may lead to ischemic necrosis, intestinal atresia, or perforation [4]. Several studies have reported an increased frequency (8–12 % ) of cystic fibrosis in surgical patients with jejunoileal atresia [9, 10, 13, 15]. Roberts et al. showed that Caucasian infants with jejunoileal atresia have an observer to expected (O/E) ratio for cystic fibrosis of more than 210 times compared with Caucasian infants in the general population based on population-based data [10]. In our patient, signs of intestinal malabsorption were already present shortly after birth, they were, however, attributed to intestinal atresia and interpreted as surgical complications. Therefore, in all neonates presenting with jejunoileal atresia cystic fibrosis should be ruled out by early pilocarpin iontophoresis. Cystic fibrosis patients presenting with meconium ileus, possibly complicated by perforation, have a significantly higher occurrence of homozygous F508del mutation and compound heterozygous F508del/G542X mutation, whereas compound heterozygous F508del/G551D and F508del/R117H mutations are associated with a lower incidence in meconium ileus [6]. Our patient is homozygous for the F508del mutation. 79 % of cystic fibrosis patients with at least one F508del mutation have predominant abdominal symptoms postpartum including meconium ileus rather than pulmonary symptoms [4]. However, a small number of patients with apple peel syndrome presents with microcephaly and ocular anomalies such as anterior segment anomalies of the eye or corneal leukoma [1, 14, 17]. In these cases, early recognition is important because serious visual impairment may develop. One case of apple peel intestinal atresia combined with microcephaly has been described with multiple variable aneuploidy [2]. Also familial occurrence has been reported suggesting a hereditary component with Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
Downloaded by: University of Queensland. Copyrighted material.
▼
transmission of an autosomal recessive gene [8]. However, a specific genetic defect responsible for apple peel syndrome associated with microcephaly and ocular anomalies has not been identified. Our observation suggests that cystic fibrosis is a risk factor for intestinal atresia and apple peel syndrome. Especially patients with a homozygous F508del mutation, like our patient, or a compound heterozygous F508del/G542X mutation may have predominantly abdominal symptoms early in life. Apple peel syndrome is most likely due to an intrauterine vascular accident of the intestine. In cystic fibrosis, meconium ileus can compromise blood supply of the intestine causing intestinal atresia. Therefore, cystic fibrosis should always be ruled out in apple peel syndrome, especially if there are no associated malformations such as microcephaly or ocular abnormalities, and if there is no intestinal malrotation.
Conflict of interest: The authors have no conflict of interest to disclose. References 1 Bellini C, Mazzella M, Arioni C et al. „Apple-peel“ intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am J Med Genet 2002; 110: 176–178 2 Bower KL, Dennis NR, Wellesley D et al. New case of „apple-peel“ intestinal atresia and ocular anomalies with mosaic variegated aneuploidy. Am J Med Genet 2003; 117A: 200–201 3 Diez-Pardo JA, Baoquan Q, Navarro C et al. A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Surg 1996; 31: 498–502 4 Escobar MA, Grosfeld JL, Burdick JJ et al. Surgical considerations in cystic fibrosis: a 32-year evaluation of outcomes. Surgery 2005; 138: 560–571 discussion 571–572
Broekaert IJ et al. Cystic Fibrosis as a … Klin Padiatr 2014; 226: 44–46
5 Festen S, Brevoord JC, Goldhoorn GA et al. Excellent long-term outcome for survivors of apple peel atresia. J Pediatr Surg 2002; 37: 61–65 6 Gorter RR, Karimi A, Sleeboom C et al. Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. J Pediatr Gastroenterol Nutr 2010; 50: 569–572 7 Louw JH, Barnard CN. Congenital intestinal atresia; observations on its origin. Lancet 1955; 269: 1065–1067 8 Pumberger W, Birnbacher R, Pomberger G et al. Duodeno-jejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery: a hereditary compound structure in duodenal atresia? Am J Med Genet 2002; 109: 52–55 9 Rescorla FJ, Grosfeld JL. Intestinal atresia and stenosis: Analysis of survival in 120 cases. Surgery 1985; 98: 668–676 10 Roberts HE, Cragan JD, Cono J et al. Increased frequency of cystic fibrosis among infants with jejunoileal atresia. Am J Med Genet 1998; 78: 446–449 11 Santulli TV, Blanc WA. Congenital atresia of the intestine. Pathogenesis and treatment. Ann Surg 1961; 154: 939–948 12 Shorter NA, Georges A, Perenyi A et al. A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia. J Pediatr Surg 2006; 41: 1822–1825 13 Siersma CL, Rottier BL, Hulscher JB et al. Jejunoileal atresia and cystic fibrosis: don’t miss it. BMC Res Notes 2012; 5: 677 14 Slee J, Goldblatt J. Further evidence for a syndrome of “apple peel” intestinal atresia, ocular anomalies and microcephaly. Clin Genet 1996; 50: 260–262 15 Stollman TH, Wijnen RM, Draaisma JM. Investigation for cystic fibrosis in infants with jejunoileal atresia in the Netherlands: a 35-year experience with 114 cases. Eur J Pediatr 2007; 166: 989–990 16 Sweeney B, Surana R, Puri P. Jejunoileal atresia and associated malformations: correlation with the timing of in utero insult. J Pediatr Surg 2001; 36: 774–776 17 van Bever Y, van Hest L, Wolfs R et al. Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. Am J Med Genet A 2008; 146A: 500–504
Downloaded by: University of Queensland. Copyrighted material.
46 Case Report
