Introduction Despite recent advances in prenatal diagnosis, neonatal intensive care and surgery, bilateral congenital diaphragmatic defects continue to have high mortality. Survival of these infants often depends on cardiopulmonary function and the presence of other non-pulmonary congenital anomalies and chromosomal defects. We present a case of bilateral diaphragmatic defect with unilateral pulmonary agenesis.

Case report A 2240 g male infant was born at 35 weeks’ gestation to a 34-year-old mother with a history of polyhydramnios. He experienced early distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, left atrial and ventricular hypoplasia, large atrial septal defect, aortic over-ride of the septum, pulmonary artery aplasia and gall bladder agenesis. Cytogenetic studies showed a normal male karyotype.

Conclusion Bilateral agenesis of the diaphragm is a rare, life-threatening malformation and associated frequently with other major anomalies. The antenatal diagnosis permits the pediatrician and the surgeon to prepare and optimize the care of the newborn⇓

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Karadeniz et al