Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
Brain
/ diagnostic imaging
Filamins
/ genetics
Humans
Infant
Loss of Function Mutation
Lung
/ diagnostic imaging
Lung Diseases
/ congenital
Male
Periventricular Nodular Heterotopia
/ genetics
Pulmonary Emphysema
/ complications
Radiography, Thoracic
Respiration, Artificial
Respiratory Insufficiency
/ etiology
Tomography, X-Ray Computed
Children
Congenital enphysema
Filamin a
Lung disease
Periventricular nodular heterotopia
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
29 03 2019
29 03 2019
Historique:
received:
13
09
2018
accepted:
14
03
2019
entrez:
30
3
2019
pubmed:
30
3
2019
medline:
10
3
2020
Statut:
epublish
Résumé
Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 30922288
doi: 10.1186/s12887-019-1460-4
pii: 10.1186/s12887-019-1460-4
pmc: PMC6440113
doi:
Substances chimiques
FLNA protein, human
0
Filamins
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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