Article
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
The Journal of pediatrics - 1 Nov 2017
López-Andreu Juan A, Hidalgo-Santos Antonio D, Fuentes-Castelló Miguel A, Mancheño-Franch Nuria, Cerón-Pérez Juan A, Esteban-Ricós Maria J, Pedrola-Vidal Laia, Nogee Lawrence M
Abstract excerpt
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.
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