Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia

TL;DR

A full-term baby presented with multiple rare congenital conditions, including chest deformity, hernias, and intestinal blockage, which have not been previously reported together.

Contribution

This case report documents a previously unreported combination of congenital anomalies in a neonate.

Findings

The neonate had pectus excavatum, bilateral hydroceles, and type 2 ileal atresia confirmed prenatally and postnatally.

An indirect inguinal hernia developed at four months, requiring surgical intervention.

The combination of these anomalies suggests possible genetic or developmental disruptions.

Abstract

This case study describes a combination of congenital anomalies observed in a full-term male neonate, including pectus excavatum, bilateral hydroceles, an indirect inguinal hernia, and type 2 ileal atresia. The neonate, delivered by cesarean section at 39 weeks and one day, presented with pectus excavatum and bilateral hydroceles, confirmed both prenatally and postnatally. Postpartum, the neonate experienced feeding difficulties and failed to pass meconium within 24 hours of birth. Diagnostic imaging revealed dilated bowel loops consistent with intestinal obstruction, necessitating surgical intervention for ileal atresia. At a four-month follow-up, the patient was found to have developed an inguinal hernia. This constellation of anomalies has not been previously documented, highlighting the importance of comprehensive evaluation, multidisciplinary care, and patient counseling in such cases. Furthermore, this report underscores the need for further investigation into potential genetic syndromes, developmental disruptions in mesodermal-derived structures, or in utero vascular insults that may underlie the concurrent presentation of these anomalies.

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