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 Lord, Amanda
A1 Shapiro, Adam J
A1 Saint-Martin, Christine
A1 Claveau, Martine
A1 Melançon, Serge
A1 Wintermark, Pia
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.