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

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

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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.
Original languageEnglish
JournalBMC Pediatrics
Issue number1
Publication statusPublished - Mar 29 2019



  • Children
  • Congenital enphysema
  • Filamin a
  • Lung disease
  • Periventricular nodular heterotopia

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