ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.

BACKGROUND: Surfactant protein abnormalities are rare causes of respiratory distress syndrome. CASE CHARACTERISTICS: A late preterm (36 wks) who presented with respiratory distress syndrome. OBSERVATION: He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production. OUTCOME: He died of severe respiratory failure even after multiple doses of surfactants and ventilation. MESSAGE: Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.