title: 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: Department of Pediatrics.
authors: Amanda
authors: A
authors: Lord
authors: Division of Pediatric Respirology, Department of Pediatrics.
authors: Adam J
authors: AJ
authors: Shapiro
authors: Department of Radiology.
authors: Christine
authors: C
authors: Saint-Martin
authors: Division of Newborn Medicine, Department of Pediatrics.
authors: Martine
authors: M
authors: Claveau
authors: Division of Genetics, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Québec, Canada.
authors: Serge
authors: S
authors: Melançon
authors: Division of Newborn Medicine, Department of Pediatrics pia.wintermark@bluemail.ch.
authors: Pia
authors: P
authors: Wintermark
mesh_terms: D001997:Bronchopulmonary Dysplasia / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D064448:Filamins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
chemical_list: D064448:Filamins
keywords: bronchopulmonary dysplasia; diffuse lung disease; filamin A (FLNA) mutation; heterotopia; newborn