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.
MeSH terms
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ATP-Binding Cassette Transporters / genetics*
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Autopsy
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Biopsy, Needle
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Disease Progression
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Fatal Outcome
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Female
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Gene Expression Regulation, Neoplastic
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High-Frequency Ventilation / methods
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Humans
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Immunohistochemistry
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Infant, Newborn
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Lung Neoplasms / genetics*
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Lung Neoplasms / pathology
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Lung Neoplasms / therapy
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Mutation
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Radiography, Thoracic
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Respiratory Distress Syndrome, Newborn / diagnostic imaging
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Respiratory Distress Syndrome, Newborn / genetics
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Respiratory Distress Syndrome, Newborn / therapy*
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Risk Assessment
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Solitary Pulmonary Nodule / genetics*
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Solitary Pulmonary Nodule / pathology
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Solitary Pulmonary Nodule / therapy
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Tomography, X-Ray Computed
Substances
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ATP-Binding Cassette Transporters