Abstract
Objectives: To report a Saudi family of consanguineous parents who had two daughters with familial congenital acinar dysplasia, who died shortly after birth of respiratory failure.
Case Presentation: A full-term female baby born to a 28-year-old mother via emergency Cesarean section. Antenatally, the mother was diagnosed with preeclampsia and severe oligohydramnios. The baby developed severe respiratory distress immediately after birth and required positive pressure ventilation in the operating room. Echocardiography revealed severe pulmonary hypertension with supra-systemic estimated pulmonary pressure. Despite all management measures, the baby continued to deteriorate with persistent respiratory failure. The diagnosis of CAD was confirmed by open lung biopsy at the age of two months. She passed away at the age of three months due to severe refractory respiratory failure. One year later, her mother delivered another baby girl with CAD who also died of respiratory failure at the age of two months.
Conclusions: CAD is a rare cause of lung hypoplasia. It mainly affects females and its etiology may be through autosomal recessive inheritance. The affected child usually dies of respiratory failure shortly after birth. It should be expected prenatally if there is absence of fetal breathing movements. Fetal monitoring and proper antenatal care may have a role in prevention of CAD.