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BMC Pediatrics
Published in: BMC Pediatrics 1/2019

Open Access 01-12-2019 | Case report

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Authors: Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra

Published in: BMC Pediatrics | Issue 1/2019

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Abstract

Background

Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases.

Case presentation

We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present.

Conclusions

We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.
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Metadata
Title
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
Authors
Gloria Pelizzo
Mirella Collura
Aurora Puglisi
Maria Pia Pappalardo
Emanuele Agolini
Antonio Novelli
Maria Piccione
Caterina Cacace
Rossana Bussani
Giovanni Corsello
Valeria Calcaterra
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2019
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-019-1460-4

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