Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn. Issue 1 (27th January 2021)

• Record Type: Journal Article
• Authors: Gupta, Shelly; Agrawal, Gopal; Balde, Manish; Wazir, Sanjay
• Is Part Of: BMJ case reports. Volume 14:Issue 1(2021)
• Publication Date: 2021-01-27
• Subjects: congenital disorders -- neonatal health -- neonatal and paediatric intensive care -- materno-fetal medicine; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2020-239169
• Languages: English
• ISSNs: 1757-790X

Abstract

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.