Pyloric Atresia and Prepyloric Antral Diaphragm

  • Girolamo MattioliEmail author
  • Sara Costanzo
Reference work entry


Pyloric atresia (PA) and prepyloric antral diaphragm are two causes of congenital gastric outlet obstruction.

PA is a very rare condition, with an incidence of about 1 in 100,000 newborns, representing approximately 1% of all intestinal atresias. The exact etiology of this condition is not known. Commonly, PA is an isolated condition, but familial occurrence is also reported, supporting a genetic predisposition. Most of the familial cases have been reported to be associated with epidermolysis bullosa (EB-PA) and are characterized by an autosomal recessive inheritance. Prenatal diagnosis is possible on ultrasound (US); prenatal testing in families at risk for EB-PA can be performed. After birth, the main presenting symptoms are non-bilious vomiting and upper abdominal distension. Associated anomalies are very frequent, the commonest being EB. The diagnosis can be made on plain abdominal X-ray, barium meal, and abdominal US. The treatment is surgical and the prognosis is variable, mostly depending on the severity of the associated conditions.

Prepyloric antral diaphragm is a rare condition, whose prevalence and etiology are still unknown. The age of onset and clinical presentation vary depending on the degree of obstruction determined by the diaphragm. The main symptoms are recurrent non-bilious vomiting, often projectile; progressive feeding problems; epigastric pain; and failure to thrive. The diagnosis can be made on plain abdominal films, barium meal, and abdominal US; endoscopy is helpful and may also be a therapeutic tool. Surgery is the treatment of choice and the prognosis is excellent.


Gastric outlet obstruction (GOO) Pyloric atresia (PA) Prepyloric antral diaphragm Epidermolysis bullosa (EB) Hereditary multiple intestinal atresias (HMIA) Carmi syndrome Integrin gene (ITG) mutations Plectin (PLEC) gene mutations Pyloroplasty Gastroduodenostomy 


  1. Abe M, Sawamura D, Goto M, Nakamura H, Nagasaki A, Nomura Y, Kawasaki H, Isogai R, Shimizu H. ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. J Dermatol Sci. 2007;47(2):165–7.PubMedCrossRefPubMedCentralGoogle Scholar
  2. Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int. 2007;23(6):559–63.PubMedCrossRefPubMedCentralGoogle Scholar
  3. Andriessen MJ, Matthyssens LE, Heij HA. Pyloric atresia. J Pediatr Surg. 2010;45(12):2470–2.PubMedCrossRefPubMedCentralGoogle Scholar
  4. Bass J. Pyloric atresia associated with multiple intestinal atresias and immune difficiency. J Pediatr Surg. 2002;37(6):941–2.PubMedCrossRefPubMedCentralGoogle Scholar
  5. Bıçakcı U, Tander B, Cakmak Çelik F, Arıtürk E, Rızalar R. Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature. Ulus Travma Acil Cerrahi Derg. 2012;18(3):271–3.PubMedCrossRefPubMedCentralGoogle Scholar
  6. Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Am J Med Genet A. 2008;146A(8):1063–6.PubMedCrossRefPubMedCentralGoogle Scholar
  7. Borgnon J, Ouillon-Villet C, Huet F, Sapin E. Gastric outlet obstruction by an antral mucosal diaphragm: a case of a congenital anomaly revealed by an acquired disease. Eur J Pediatr Surg. 2003;13(5):327–9.PubMedCrossRefPubMedCentralGoogle Scholar
  8. Chao HC, Luo CC, Wang CJ. Elimination of postoperative pyloric stricture by endoscopic electrocauterization and balloon dilatation in an infant with congenital antral web. Pediatr Neonatol. 2011;52(2):106–9.PubMedCrossRefPubMedCentralGoogle Scholar
  9. Charlesworth A, Chiaverini C, Chevrant-Breton J, Delrio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013;168(4):808–14.PubMedCrossRefPubMedCentralGoogle Scholar
  10. Chew AL, Friedwald JP, Donovan C. Diagnosis of congenital antral web by ultrasound. Pediatr Radiol. 1992;22:342–3.PubMedCrossRefPubMedCentralGoogle Scholar
  11. Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010;28(1):43–54.PubMedPubMedCentralCrossRefGoogle Scholar
  12. Cole C, Freitas A, Clifton MS, Durham MM. Hereditary multiple intestinal atresias: 2 new cases and review of the literature. J Pediatr Surg. 2010;45(4):E21–4.PubMedCrossRefPubMedCentralGoogle Scholar
  13. D’Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G. Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2008;128(12):2815–9.PubMedCrossRefPubMedCentralGoogle Scholar
  14. Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol. 2008;88(5):438–48.PubMedCrossRefPubMedCentralGoogle Scholar
  15. Dessanti A, Di Benedetto V, Iannuccelli M, Balata A, Cossu Rocca P, Di Benedetto A. Pyloric atresia: a new operation to reconstruct the pyloric sphincter. J Pediatr Surg. 2004;39(3):297–301.PubMedCrossRefPubMedCentralGoogle Scholar
  16. de Vries AG, Bodewes FA, van Baren R, Karrenbeld A, Broens PM. Misleading clinical symptoms and a prolonged diagnostic approach in prepyloric web. J Pediatr Gastroenterol Nutr. 2011;52(5):627–9.PubMedCrossRefPubMedCentralGoogle Scholar
  17. Feng J, Gu W, Li M, Yuan J, Weng Y, Wei M, Zhou X. Rare causes of gastric outlet obstruction in children. Pediatr Surg Int. 2005;21(8):635–40.PubMedCrossRefPubMedCentralGoogle Scholar
  18. Ferguson C, Morabito A, Bianchi A. Duodenal atresia and gastric antral web. A significant lesson to learn. Eur J Pediatr Surg. 2004;14(2):120–2.PubMedCrossRefPubMedCentralGoogle Scholar
  19. Fontenot B, Streck C, Hebra A, Cina R, Gutierrez P. Pyloric atresia. Am Surg. 2011;77(2):249–50.PubMedPubMedCentralGoogle Scholar
  20. Gahukamble DB. Familial occurrence of congenital incomplete prepyloric mucosal diaphragm. J Med Genet. 1998;35(12):1040–2.PubMedPubMedCentralCrossRefGoogle Scholar
  21. Hermanowicz A, Debek W. Images in clinical medicine. Single bubble – pyloric atresia. N Engl J Med. 2015;373(9):863.PubMedCrossRefPubMedCentralGoogle Scholar
  22. Ilce Z, Erdogan E, Kara C, Celayir S, Sarimurat N, Senyüz OF, Yeker D. Pyloric atresia: 15-year review from a single institution. J Pediatr Surg. 2003;38(11):1581–4.PubMedCrossRefPubMedCentralGoogle Scholar
  23. Lui KW, Wong HF, Wan YL, Hung CF, Ng KK, Tseng JH. Antral web – a rare cause of vomiting in children. Pediatr Surg Int. 2000;16(5–6):424–5.PubMedCrossRefPubMedCentralGoogle Scholar
  24. Mboyo A, Clermidi P, Podevin G. Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis. Acta Chir Belg. 2016;116(2):89–95.PubMedCrossRefPubMedCentralGoogle Scholar
  25. Medsinge A, Bartoletti SC, Furtado A, Katz A, Tadros SS. Isolated intramuscular fibrous band masquerading antral web in a premature neonate. A case report. J Pediatr Surg. 2012;47(8):e17–9.PubMedCrossRefPubMedCentralGoogle Scholar
  26. Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H. DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. Int J Dermatol. 2011;50(4):439–42.PubMedCrossRefPubMedCentralGoogle Scholar
  27. Natsuga K. Plectin-related skin diseases. J Dermatol Sci. 2015;77(3):139–45.PubMedCrossRefPubMedCentralGoogle Scholar
  28. Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H. Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. Hum Mutat. 2010;31(10):E1687–98.PubMedPubMedCentralCrossRefGoogle Scholar
  29. Nissan A, Seror D, Udassin R. Gastric outlet obstruction caused by prepyloric mucosal diaphragm mimicking duodenal ulcer: a case report. Acta Paediatr. 1997;86(1):116–8.PubMedCrossRefPubMedCentralGoogle Scholar
  30. Noel RJ, Glock MS, Pranikoff T, Hill ID. Nonobstructive antral web: an unusual cause of excessive crying in an infant. J Pediatr Gastroenterol Nutr. 2000;31(4):439–41.PubMedCrossRefPubMedCentralGoogle Scholar
  31. Oak S, Bhatnagar M, Kulkarni B, Nanivadekar S, Karmarkar S, Sawant P. Prepyloric diaphragm detected following foreign body ingestion. Indian J Gastroenterol. 1996;15(3):109–10.PubMedPubMedCentralGoogle Scholar
  32. Otjen JP, Iyer RS, Phillips GS, Parisi MT. Usual and unusual causes of pediatric gastric outlet obstruction. Pediatr Radiol. 2012;42(6):728–37.PubMedCrossRefPubMedCentralGoogle Scholar
  33. Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B. First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. J Assist Reprod Genet. 2012;29(4):347–52.PubMedPubMedCentralCrossRefGoogle Scholar
  34. Parshotam G, Ahmed S, Gollow I. Single or double bubble: sign of trouble! Congenital pyloric atresia: report of two cases and review of literature. J Paediatr Child Health. 2007;43(6):502–3.PubMedCrossRefPubMedCentralGoogle Scholar
  35. Parsons LG, Barling S. Diseases of infancy and childhood. London: Oxford Medical Publication; 1933. p. 739.Google Scholar
  36. Polonkai E, Nagy A, Csízy I, Molnár C, Roszer T, Balla G, Józsa T. Pyloric atresia associated with Dieulafoy lesion and gastric dysmotility in a neonate. J Pediatr Surg. 2011;46(10):E19–23.PubMedCrossRefPubMedCentralGoogle Scholar
  37. Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr. 2008;47(5):585–91.PubMedCrossRefPubMedCentralGoogle Scholar
  38. Scheida N, Wales PW, Krishnamurthy G, Chait PG, Amaral JG. Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome. Pediatr Radiol. 2009;39(1):66–9.PubMedCrossRefPubMedCentralGoogle Scholar
  39. Sencan A, Mir E, Karaca I, Günşar C, Sencan A, Topçu K. Pyloric atresia associated with multiple intestinal atresias and pylorocholedochal fistula. J Pediatr Surg. 2002;37(8):1223–4.PubMedCrossRefPubMedCentralGoogle Scholar
  40. Sharma KK, Ranka P, Goyal P, Dabi DR. Gastric outlet obstruction in children: an overview with report of Jodhpur disease and Sharma’s classification. J Pediatr Surg. 2008;43(10):1891–7.PubMedCrossRefPubMedCentralGoogle Scholar
  41. Tiao MM, Ko SF, Hsieh CS, Ng SH, Liang CD, Sheen-Chen SM, Chuang JH, Huang HY. Antral web associated with distal antral hypertrophy and prepyloric stenosis mimicking hypertrophic pyloric stenosis. World J Gastroenterol. 2005;11(4):609–11.PubMedPubMedCentralCrossRefGoogle Scholar
  42. Tomá P, Mengozzi E, Dell’Acqua A, Mattioli G, Pieroni G, Fabrizzi G. Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias). Pediatr Radiol. 2002;32(8):552–5.PubMedCrossRefPubMedCentralGoogle Scholar
  43. Usui N, Kamiyama M, Kimura T, Kamata S, Nose K, Fukuzawa M. Prenatal diagnosis of isolated congenital pyloric atresia in a sibling. Pediatr Int. 2013;55(1):117–9.PubMedCrossRefPubMedCentralGoogle Scholar
  44. Yokoyama S, Utsunomiya H. A case of successful surgical repair for solid segment type pyloric atresia using a novel gastroduodenostomy procedure. J Pediatr Surg. 2012;47(11):2158–60.PubMedCrossRefPubMedCentralGoogle Scholar
  45. Yu DC, Voss SD, Javid PJ, Jennings RW, Weldon CB. In utero diagnosis of congenital pyloric atresia in a single twin using MRI and ultrasound. J Pediatr Surg. 2009;44(11):e21–4.PubMedCrossRefPubMedCentralGoogle Scholar
  46. Zecca E, Corsello M, Pintus C, Nanni L, Zecca S. Peculiar type 1 congenital pyloric atresia: a case report. Ital J Pediatr. 2010;36:3.PubMedPubMedCentralCrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Department of Paediatric SurgeryGiannina Gaslini Research Institute and University of GenoaGenoaItaly
  2. 2.Department of Paediatric SurgeryUniversity of GenoaGenoaItaly
  3. 3.Paediatric Surgery Unit“V. Buzzi” Children’s HospitalMilanItaly

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