RT Journal Article SR Electronic T1 Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns JF Respiratory Care FD American Association for Respiratory Care SP e171 OP e177 DO 10.4187/respcare.02847 VO 59 IS 11 A1 Amanda Lord A1 Adam J Shapiro A1 Christine Saint-Martin A1 Martine Claveau A1 Serge Melançon A1 Pia Wintermark YR 2014 UL http://rc.rcjournal.com/content/59/11/e171.abstract AB 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.