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

Autores de IIS La Fe

• Juan Alonso López Andreu

  Autor

• Antonio David Hidalgo Santos

  Autor

• Nuria Mancheño Franch

  Autor

• Juan Antonio Ceron Perez

  Autor

• María Jesus Esteban Ricos

  Autor

• Laia Pedrola Vidal

  Autor

Participantes ajenos a IIS La Fe

• Fuentes-Castello, MA
• Nogee, LM

Grupos

• Alergia y enfermedades respiratorias de la Infancia

• Unidad de Biomarcadores y Medicina de Precisión (UBYMP)

Abstract

Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in fullterm 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.

Keywords

• SFTPB mutation; SP-B deficiency; case report; child; corticosteroids