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, Mirella Collura, Valeria Calcaterra, Gloria Pelizzo, Antonio Novelli, Aurora Puglisi

Risultato della ricerca: Article

1 Citazione (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 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.
Lingua originaleEnglish
Numero di pagine10
RivistaBMC Pediatrics
Volume19
Stato di pubblicazionePublished - 2019

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

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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

In: BMC Pediatrics, Vol. 19, 2019.

Risultato della ricerca: Article

Piccione, M, Corsello, G, Cacace, C, Pappalardo, MP, Bussani, R, Agolini, E, Puglisi, A, 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, vol. 19.
Piccione, Maria ; Corsello, Giovanni ; Cacace, Caterina ; Pappalardo, Maria Pia ; Bussani, Rossana ; Agolini, Emanuele ; Puglisi, Aurora ; Collura, Mirella ; Calcaterra, Valeria ; Pelizzo, Gloria ; Novelli, Antonio ; Puglisi, Aurora. / Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. In: BMC Pediatrics. 2019 ; Vol. 19.
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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.",
author = "Maria Piccione and Giovanni Corsello and Caterina Cacace and Pappalardo, {Maria Pia} and Rossana Bussani and Emanuele Agolini and Aurora Puglisi and Mirella Collura and Valeria Calcaterra and Gloria Pelizzo and Antonio Novelli and Aurora Puglisi",
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T1 - Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

AU - Piccione, Maria

AU - Corsello, Giovanni

AU - Cacace, Caterina

AU - Pappalardo, Maria Pia

AU - Bussani, Rossana

AU - Agolini, Emanuele

AU - Puglisi, Aurora

AU - Collura, Mirella

AU - Calcaterra, Valeria

AU - Pelizzo, Gloria

AU - Novelli, Antonio

AU - Puglisi, Aurora

PY - 2019

Y1 - 2019

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 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.

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 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.

UR - http://hdl.handle.net/10447/363338

M3 - Article

VL - 19

JO - BMC Pediatrics

JF - BMC Pediatrics

SN - 1471-2431

ER -