Pyloric Atresia and Prepyloric Antral Diaphragm

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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.

Keywords

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 
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Copyright information

© Springer-Verlag GmbH Germany 2017

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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