Surfactant Deficiency: Late Presentation in a Term 2-Year-Old Male

Abstract

Introduction Neonatal reactive airways disease (RDS) and childhood interstitial lung disease (chILD) include a heterogeneous spectrum of disorders. With recent advances, specific genetic mutations have been identified in disease pathogenesis: chief among these are inborn errors of surfactant metabolism. Research over the past decade has demonstrated that carrier genotypes and certain compound heterozygotes may have mild phenotypes, which remain undetected until childhood. The case herein corroborates recent data and demonstrates obstacles to final diagnosis. Case Report A 2-year-old male was admitted for persistent hypoxia following a sedated MRI brain. The patient was a term AGA male, with history of RDS, …