Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
J Pediatr
; 190: 268-270.e1, 2017 11.
Article
in En
| MEDLINE
| ID: mdl-28888561
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pulmonary Alveolar Proteinosis
/
Pulmonary Surfactant-Associated Protein B
/
Delayed Diagnosis
Type of study:
Diagnostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
J Pediatr
Year:
2017
Type:
Article