Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.
- Case report
- SFTPB mutation
- SP-B deficiency
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health