Fetal Diaphragmatic Eventration: A Case Report.

BACKGROUND

Congenital diaphragmatic eventration (CDE) is a rare congenital malformation that is well described in the pediatric literature. In contrast to congenital diaphragmatic hernia (CDH), there is no physical defect in the diaphragm with CDE. Prenatal differentiation of the two pathologies represents a diagnostic and prognostic challenge.

CASE: A 26-year-old nulliparous woman was evaluated for a fetal thoracic mass. At 22 weeks, detailed morphology ultrasound revealed a multi-cystic structure in the left side of the thorax. Differential diagnosis included cystic congenital adenomatoid pulmonary malformation and CDH. Left diaphragmatic eventration was added to the differential diagnosis when serial ultrasound at 36 weeks showed the left hemidiaphragm as a thin membrane bulging into the fetal chest with the left kidney in a higher position underneath. The male infant was delivered vaginally at 373 weeks. CT imaging at 2 days of life showed findings consistent with left diaphragmatic eventration with protrusion of small bowel loops and the left kidney underneath. The infant was successfully extubated 3 days later and remained on nasal cannula until discharge on day 17 of life. At 6 months, the infant required operative repair owing to increasing shortness of breath.

CONCLUSION

CDE is a rare and difficult diagnosis to consider prenatally. Probable associated features may aid diagnosis. Additional, larger case series are needed to improve prenatal differentiation of this condition.