Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.

3rd Department of Internal Medicine 1st Faculty of Medicine Charles University Prague Czechia

Center for Experimental Medicine Institute for Clinical and Experimental Medicine Prague Czechia

Central European Institute of Technology Brno Czechia

Department of Gastroenterology and Internal Medicine University Hospital Brno Brno Czechia

Department of Pathology University Hospital Brno Brno Czechia

Department of Pediatric Anesthesiology and Intensive Care Medicine University Hospital Brno Brno Czechia

Department of Pediatric Otorhinolaryngology University Hospital Brno Brno Czechia

Department of Pediatric Radiology University Hospital Brno Brno Czechia

Department of Pediatrics University Hospital Brno Brno Czechia

Department of Surgery University Hospital Brno Brno Czechia

Faculty of Medicine Masaryk University Brno Czechia

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ABCA3 and LZTFL1 Polymorphisms and Risk of COVID-19 in the Czech Population