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 journalArticle

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

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  • Cite this

    López-Andreu, J. A., Hidalgo-Santos, A. D., Fuentes-Castelló, M. A., Mancheño-Franch, N., Cerón-Pérez, J. A., Esteban-Ricós, M. J., Pedrola-Vidal, L., & Nogee, L. (Accepted/In press). Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency. Journal of Pediatrics. https://doi.org/10.1016/j.jpeds.2017.07.009