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Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn
  1. Shelly Gupta,
  2. Gopal Agrawal,
  3. Manish Balde and
  4. Sanjay Wazir
  1. Department of Pediatrics and Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India
  1. Correspondence to Dr Gopal Agrawal; drgopalagrawal2000{at}gmail.com

Abstract

About 10% of term neonates present with respiratory distress at birth. The most common aetiologies include transient tachypnoea of the newborn, pneumonia and meconium aspiration syndrome (MAS). Hyaline membrane disease (HMD) in a term infant occurs either as primary HMD, secondary surfactant deficiency or congenital surfactant dysfunction. A detailed history supported with appropriate radiological and laboratory investigations can help a clinician reach a diagnosis. We report a case of surfactant dysfunction disorder which presented as severe MAS and persistent pulmonary hypertension of the newborn. In the infant described, the significant history of a sibling death with severe neonatal respiratory disease led us to think of diffuse developmental lung diseases especially surfactant dysfunction syndromes. Exome sequencing detected a heterozygous missense variation in exon 21 of the ATP binding cassette protein member 3 (ABCA3) gene. Based on the clinical picture supported with the exome sequencing, a diagnosis of surfactant dysfunction disorder (ABCA3 deficiency) was confirmed.

  • congenital disorders
  • neonatal health
  • neonatal and paediatric intensive care
  • materno-fetal medicine

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Footnotes

  • Contributors SG, GA, MB: conceived and wrote the manuscript. SW: critically reviewed and finalised the manuscript. All authors (SG, GA, MB, SW): involved in clinical care of the infant, read and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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