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.

journal_name

Respir Care

journal_title

Respiratory care

authors

Lord A,Shapiro AJ,Saint-Martin C,Claveau M,Melançon S,Wintermark P

doi

10.4187/respcare.02847

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

e171-7

issue

11

eissn

0020-1324

issn

1943-3654

pii

respcare.02847

journal_volume

59

pub_type

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