Diaphragmatic Agenesis Associated with Bilateral Pulmonary Hypoplasia: a case report

Abstract

Objective: To report the unusual case of a neonate diagnosed with diaphragmatic agenesis associated with bilateral pulmonary hypoplasia. Case description: Female newborn, born at full-term and by vaginal delivery, with an average weight, height and cephalic perimeter. Prenatal care performed along with the 22-week ultrasound, which did not report any apparent abnormalities. She was born hypotonus, bradycardic and with irregular breathing. The positive pressure
ventilation was not effective, so it required a tracheal intubation in the obstetric center. She was referred to the pediatric intensive care unit. A computerized tomography demonstrated pneumothorax, atelectasis lungs, diaphragmatic agenesis and abdominal organs in the thoracic cavity. When the newborn completed 40 hours of life, the surgeons performed an exploratory thoracotomy, which showed hypoplastic left lung, liver and other abdominal viscera in the thoracic cavity and absence of diaphragm. The right lung was also underdeveloped and there was dextrocardia. The infant remained in serious condition during the surgery and she was readmitted in the intensive care unit, however, due to instability, she died on the second day of life. Discussion: The
agenesis of the diaphragm is a very rare condition, included in the group of congenital diaphragmatic hernias. It usually causes symptoms like progressive respiratory failure, usually due to pulmonary agenesis, and death in the first hours of life outside the womb. Those pathologies can be diagnosed during pregnancy, which assists in the care of the neonate in the delivery room, who will come to life in a well-equipped medical center.