Abstract
Respiratory distress syndrome (RDS) is one of the most common neonatal
diseases causing early life morbidity and mortality. We present a case
of a full-term baby born to consanguineous parents who died due to
severe progressive respiratory failure (PRF). Whole exome sequencing
(WES) identified a homozygous disease-causing variant in the ABCA3 gene.
Histopathological and electron microscopic examination of postmortem
lung tissue revealed characteristic findings consistent with congenital
surfactant deficiency along with the ultrastructural evidence of
‘fried-egg’ like inclusions. Our study provides thorough clinical,
radiological, and ultrastructural analysis of the variant’s clinical
impact and elucidates WES’s valuable role in the molecular diagnosis of
(PRF).