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  • Title: Congenital Diaphragmatic Hernia with Liver Herniation into the Pericardial Sac in a 30-Week Gestation Infant.
    Author: Patel N, Sollinger C, D'Angio CT, Vinocur JM, Ackerman KG, Katzman PJ.
    Journal: Pediatr Dev Pathol; 2017; 20(5):421-425. PubMed ID: 28812464.
    Abstract:
    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 midline 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 septal 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.
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