Congenital surfactant protein B (SP-B) deficiency: a case report

Pan Afr Med J. 2023 Apr 4:44:158. doi: 10.11604/pamj.2023.44.158.35316. eCollection 2023.


The incapacity to synthesize certain components of pulmonary surfactant causes a heterogeneous group of rare respiratory diseases called genetic disorders of surfactant dysfunction. We report a female full-term infant with neonatal respiratory distress of early onset due to inherited SP-B deficiency. The infant failed oxygen weaning at multiple trials. Chest computed tomography was performed on the 29th day of life revealing ground-glass opacities, regular interlobular septal thickening and fine interlobular reticulations. Analysis of genomic DNA showed homozygosity for an extremely rare SFTPB gene variant (c.620A>G, p.Tyr207Cys). Both parents were heterozygotes for the mutation. The diagnosis of congenital SP-B deficiency should be suspected whenever an early and acute respiratory failure in a term or near-term infant does not resolve after five days of age: diagnostic confirmation can be easily and rapidly obtained with the analysis of genomic DNA.

Keywords: SP-B deficiency; case report; genetics; lung disease; neonatal respiratory distress.

Publication types

  • Case Reports

MeSH terms

  • DNA
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Respiratory Distress Syndrome, Newborn* / etiology
  • Surface-Active Agents


  • IgA receptor
  • Surface-Active Agents
  • DNA

Supplementary concepts

  • Congenital Deficiency of Pulmonary Surfactant Protein B