Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.

Abstract

Bronchopulmonary dysplasia (BPD) is a common long-term complication in premature newborns requiring ventilatory support and is the most common cause of chronic diffuse lung disease in this population. We present the clinical course of a premature newborn with a complicated neonatal respiratory course that was initially thought to be related to BPD, but it did not respond to the typical therapies for this condition. Due to the findings of periventricular nodular heterotopia, the diagnosis of a filamin A gene mutation was eventually made, which explained the respiratory pathology of this patient. When time of onset and clinical course do not correlate with typical BPD, one should consider alternative diagnoses in premature infants, including neonatal diffuse lung disease.

• Authors: Amanda Lord, Adam J Shapiro, Christine Saint-Martin, Martine Claveau, Serge Melançon, Pia Wintermark
• Journal: Respiratory care (Respir Care) Vol. 59 Issue 11 Pg. e171-7 (Nov 2014) ISSN: 1943-3654 [Electronic] United States
• PMID: 25053830 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 by Daedalus Enterprises.

Chemical References

• Filamins

Topics

• Bronchopulmonary Dysplasia (diagnosis)
• DNA Mutational Analysis
• Diagnosis, Differential
• Female
• Filamins (genetics)
• Humans
• Infant, Newborn
• Infant, Premature
• Infant, Premature, Diseases (diagnosis, genetics, metabolism)
• Lung Diseases (diagnosis, genetics, metabolism)
• Mutation