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

Research output: Contribution to journalReview article

1 Citation (Scopus)

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.

Original languageEnglish
Article number86
JournalBMC Pediatrics
Volume19
Issue number1
DOIs
Publication statusPublished - Mar 29 2019

Fingerprint

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation
Respiratory Insufficiency
Tracheostomy
Genetic Testing
Artificial Respiration
Neuroimaging
Genes
Thorax
Transplants

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. / Pelizzo, Gloria; Collura, Mirella; Puglisi, Aurora; Pappalardo, Maria Pia; Agolini, Emanuele; Novelli, Antonio; Piccione, Maria; Cacace, Caterina; Bussani, Rossana; Corsello, Giovanni; Calcaterra, Valeria.

In: BMC Pediatrics, Vol. 19, No. 1, 86, 29.03.2019.

Research output: Contribution to journalReview article

Pelizzo, Gloria ; Collura, Mirella ; Puglisi, Aurora ; Pappalardo, Maria Pia ; Agolini, Emanuele ; Novelli, Antonio ; Piccione, Maria ; Cacace, Caterina ; Bussani, Rossana ; Corsello, Giovanni ; Calcaterra, Valeria. / Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. In: BMC Pediatrics. 2019 ; Vol. 19, No. 1.
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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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AU - Pappalardo, Maria Pia

AU - Agolini, Emanuele

AU - Novelli, Antonio

AU - Piccione, Maria

AU - Cacace, Caterina

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AU - Corsello, Giovanni

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N2 - 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.

AB - 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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