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Case ReportCase Reports

Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns

Amanda Lord, Adam J Shapiro, Christine Saint-Martin, Martine Claveau, Serge Melançon and Pia Wintermark
Respiratory Care November 2014, 59 (11) e171-e177; DOI: https://doi.org/10.4187/respcare.02847
Amanda Lord
Department of Pediatrics
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Adam J Shapiro
Division of Pediatric Respirology, Department of Pediatrics
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Christine Saint-Martin
Department of Radiology
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Martine Claveau
Division of Newborn Medicine, Department of Pediatrics
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Serge Melançon
Division of Genetics, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Québec, Canada.
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Pia Wintermark
Division of Newborn Medicine, Department of Pediatrics
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  • For correspondence: [email protected]
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    Fig. 1.

    Serial chest x-rays of our patient. A: day 41 of life (corrected age of 36 weeks). B: day 83 of life (corrected age of 42 weeks). C: 4 months of life (corrected age of 1.5 months). D: 7 months of age (corrected age of 4.5 months). E: 10 months of age (corrected age of 7.5 months). F: 22 months of age (corrected age of 19.5 months). Chest x-ray initially showed only mildly increased diffuse pulmonary infiltrates (A), but evolved into a coarse reticular pattern with moderate hyperinflation (B). Cystic pulmonary lesions progressively developed alternating with heterogeneous areas of atelectasis (C). Areas of atelectasis persisted, as well as right-sided hyperinflation (D–F).

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    Fig. 2.

    Serial chest computed tomography of our patient. A: day 87 of life (corrected age of 42 weeks). B: 4 months of age (corrected age of 1.5 months). C: 7 months (corrected age of 4.5 months). Chest computed tomography initially showed a patchy ground-glass appearance with areas of hyperinflation (thick arrows) and thickening of the interlobular septa (thin arrows) (A). The cystic pulmonary lesions alternating with heterogeneous areas of atelectasis (curved arrows) and thickening of the interlobular septa (thin arrows) persisted over time (B and C), but no clearly surgically removable congenital lobar emphysema was apparent.

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    Fig. 3.

    Cerebral magnetic resonance imaging of our patient performed at ∼7.5 months of age (corrected age of 5 months). A: Sagittal T1-weighted image. B: axial T1-weighted image. C: axial T2-weighted image. Note the presence of bilateral periventricular nodular heterotopia (arrows), as well as widening of subarachnoidal spaces.

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Respiratory Care: 59 (11)
Respiratory Care
Vol. 59, Issue 11
1 Nov 2014
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Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns
Amanda Lord, Adam J Shapiro, Christine Saint-Martin, Martine Claveau, Serge Melançon, Pia Wintermark
Respiratory Care Nov 2014, 59 (11) e171-e177; DOI: 10.4187/respcare.02847

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Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns
Amanda Lord, Adam J Shapiro, Christine Saint-Martin, Martine Claveau, Serge Melançon, Pia Wintermark
Respiratory Care Nov 2014, 59 (11) e171-e177; DOI: 10.4187/respcare.02847
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Keywords

  • bronchopulmonary dysplasia
  • filamin A (FLNA) mutation
  • heterotopia
  • diffuse lung disease
  • newborn

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