Abstract
Mutations in the gene for adenosine triphosphate-binding cassette transporter A3 (ABCA3) have been reported in infants and children with fatal surfactant deficiency and interstitial lung disease. Previously reported radiographic lung findings include ground-glass opacification, streaky infiltrates, and interstitial septal thickening. We report here the unusual case of a newborn who rapidly developed large rounded masses in the lung soon after birth that then resolved spontaneously by 3 months of age. She was found to be a compound heterozygote for both a known and a novel mutation in the ABCA3 gene. This report underscores the diverse clinical presentation of this condition.
Original language | English (US) |
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Pages (from-to) | e1347-e1351 |
Journal | Pediatrics |
Volume | 127 |
Issue number | 5 |
DOIs | |
State | Published - May 2011 |
Keywords
- ABCA3
- Neonatal respiratory
- Surfactant
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health