Esophageal atresia with concomitant hypertrophic pyloric stenosis: a case series and literature review.

BACKGROUND

Esophageal atresia (EA) with concomitant hypertrophic pyloric stenosis (HPS) is a rare condition, and its diagnosis can be challenging due to overlapping postoperative complications. Comprehensive clinical characterization remains limited.

METHODS

We retrospectively reviewed five patients with EA with concomitant HPS treated at our center between 2018 and 2025. A systematic literature search of PubMed, Embase, Web of Science, and CNKI identified 48 additional cases. Clinical features, timing of diagnosis, treatment strategies, and outcomes were analyzed.

RESULTS

Among 132 neonates with EA in our institution, five (3.8%) developed HPS. Four had Gross type C EA, and three were male. All underwent EA repair in the first week of life and later developed HPS, diagnosed at a median age of 45 days (range: 20-145). All patients underwent laparoscopic pyloromyotomy with uneventful recovery and were alive at a median follow-up of 50 months. Literature review revealed 48 reported cases, predominantly male (41/48) and Gross type C (42/48). Combined analysis of 53 patients showed HPS onset typically between 2 and 15 weeks, with a median age of 4 weeks (IQR: 2.5-6 weeks). Overall survival was 90.6%, with deaths mainly due to infection or severe associated anomalies.

CONCLUSIONS

HPS may coexist with EA, with an incidence of approximately 3.8%. It often presents later in the disease course. Its diagnosis can be delayed by postoperative complications or altered feeding. Long-term follow-up and multicenter studies are warranted.