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

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

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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 maleinfant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Followinglobar 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 lungdisorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of thisdisorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to defineoptimal timing of potential therapies, such as lung transplant in progressive lung disease.
Original languageEnglish
Number of pages10
JournalBMC Pediatrics
Volume19
Publication statusPublished - 2019

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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    Piccione, M., Corsello, G., Cacace, C., Pappalardo, M. P., Bussani, R., Agolini, E., Puglisi, A., Agolini, E., Collura, M., Calcaterra, V., Pelizzo, G., Novelli, A., & Puglisi, A. (2019). Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. BMC Pediatrics, 19.