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Case report
Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant


The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.

  • pneumomediastinum
  • neonatal and paediatric intensive care
  • neonatal intensive care
  • genetics

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