Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28888561.
- Also identified by DOI 10.1016/j.jpeds.2017.07.009.
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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.
Medical subject headings
- Delayed Diagnosis
- Pulmonary Alveolar Proteinosis
- Pulmonary Surfactant-Associated Protein B