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.
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| http://dx.doi.org/10.1007/s13312-014-0454-4 | DOI Listing |
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