Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

Juan A. López-Andreu, Antonio D. Hidalgo-Santos, Miguel A. Fuentes-Castelló, Nuria Mancheño-Franch, Juan A. Cerón-Pérez, Maria J. Esteban-Ricós, Laia Pedrola-Vidal, Lawrence Nogee

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
JournalJournal of Pediatrics
DOIs
StateAccepted/In press - 2017

Keywords

  • Case report
  • Child
  • Corticosteroids
  • SFTPB mutation
  • SP-B deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency'. Together they form a unique fingerprint.

Cite this