Journal Article

Case Report: Congenital diaphragmatic hernia with liver herniation into the pericardium in a 30-week gestation infant

Patel, Nisha, D'Angio, Carl T., Sollinger, Christina, Katzman, Philip J., Ackerman, Kate Guernsey, Vinocur, Jeffrey M.

2016

Overview

Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30 week gestation female with an anterior diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy. Postmortem studies also found multiple congenital anomalies including an atrioventricular defect and midline gumline defect suggesting at least a partial Pentalogy of Cantrell or variant. Early recognition and screening for associated anomalies are essential for management in this subset of patients.