Abstract
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.
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References
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.
Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int. 2007;23(6):559–63.
Andriessen MJ, Matthyssens LE, Heij HA. Pyloric atresia. J Pediatr Surg. 2010;45(12):2470–2.
Bass J. Pyloric atresia associated with multiple intestinal atresias and immune difficiency. J Pediatr Surg. 2002;37(6):941–2.
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.
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.
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.
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.
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.
Chew AL, Friedwald JP, Donovan C. Diagnosis of congenital antral web by ultrasound. Pediatr Radiol. 1992;22:342–3.
Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010;28(1):43–54.
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.
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.
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.
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.
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.
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.
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.
Fontenot B, Streck C, Hebra A, Cina R, Gutierrez P. Pyloric atresia. Am Surg. 2011;77(2):249–50.
Gahukamble DB. Familial occurrence of congenital incomplete prepyloric mucosal diaphragm. J Med Genet. 1998;35(12):1040–2.
Hermanowicz A, Debek W. Images in clinical medicine. Single bubble – pyloric atresia. N Engl J Med. 2015;373(9):863.
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.
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.
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.
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.
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.
Natsuga K. Plectin-related skin diseases. J Dermatol Sci. 2015;77(3):139–45.
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.
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.
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.
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.
Otjen JP, Iyer RS, Phillips GS, Parisi MT. Usual and unusual causes of pediatric gastric outlet obstruction. Pediatr Radiol. 2012;42(6):728–37.
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.
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.
Parsons LG, Barling S. Diseases of infancy and childhood. London: Oxford Medical Publication; 1933. p. 739.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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Mattioli, G., Costanzo, S. (2017). Pyloric Atresia and Prepyloric Antral Diaphragm. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_59-1
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DOI: https://doi.org/10.1007/978-3-642-38482-0_59-1
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