Rare: constitutes about 1 % of all digestive atresias, or 1/100,000 live births.

A few familial cases with autosomal recessive inheritance have been reported

Clinical presentations:

-         as an isolated anomaly

-         in combination with epidermolysis bullosa (see this term): [MIM 601 282] due to a mutation of the PLEC gene on 8q24 that codes for plectine-1; if only localized cutaneous aplasia (aplasia cutis) is associated with pyloric atresia, this is called Bart syndrome; other mutations of the same gene may result in the association of pyloric atresia and muscular dystrophy (see limb-girdle dystrophies LGMDR17); mutations of the  ITGB4 or ITGA6 gene can also cause an association of epidermolysis bullosa with pyloric atresia or Carmi syndrome (see this term) [MIM 226 730]

-         in the context of multiple intestinal atresias, including esophageal atresia with or without fistula.

The prognosis is poor in the forms associated with epidermolysis bullosa or other digestive atresias.

There are 3 types of pyloric atresia:

-         type I (60 %): presence of a membrane or one or two diaphragms in the pylorus

-         type II: atresia without interruption of the digestive tract

-         type III: atresia with a gap  between the stomach and the duodenum.

Intestinal malrotation or absence of the gallbladder are sometimes associated.

Diagnosis:

-         antenatal: polyhydramnios and dilated stomach: types II and III

-         postnatal: high intestinal occlusion with non-bilious vomiting: type I, the detection of which can be delayed by several months

Anesthetic implications: 

cardiac ultrasound; neonatal bowell occlusion; according to the anomalies associated with: epidermolysis bullosa, other atresias; in case of late diagnosis: importance of the preoperative chronic undernutrition

References:

-         Okoye BO, Parikh DH, Buick RG, Lander AD. 
Pyloric atresia: five new cases, a new association, and review of the literature with guidelines. 
J Pediatr Surg 2000; 35: 1242-5.

-        Dereure O. 
Epidermolyse bulleuse simple associée à un atrésie pylorique liée à une mutation du gène de la plectine. 
Ann Dermat Vénér 2006 ; 133 : 211-2.

-         Andriessen MJG, Matthyssens LE, Heij HA. 
Pyloric atresia. 
J Pediatr Surg 2010; 45: 2470-2.

-         Al-Salem AH, Abdulla MR, Kothari MR, Naga MI. 
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases. 
J Pediatr Surg 2014; 49: 1078-82. 

-        Kansra M, Raman VS, Kishore K, Puri B, Sharna A.
Congenital pyloric atresia - nine new cases: single-center experience of the long-term follow-up and lessons learnt over a decade.
J Pediatr Surg 2018; 53: 2112-6.

Updated: July 2019