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

6533b827fe1ef96bd128671c

RESEARCH PRODUCT

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

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

subject

Lung Diseases Male Pathology medicine.medical_specialty Filamins medicine.medical_treatment Children; Congenital enphysema; Filamin a; Lung disease; Periventricular nodular heterotopia Case Report Filamin Keywords: Filamin a Congenital enphysema Lung disease Children Periventricular nodular heterotopia Filamin a Lung Disorder 03 medical and health sciences 0302 clinical medicine Neuroimaging Loss of Function Mutation 030225 pediatrics medicine Humans FLNA 030212 general & internal medicine Lung Children Congenital enphysema Genetic testing Mechanical ventilation Lung medicine.diagnostic_test business.industry lcsh:RJ1-570 Brain Infant lcsh:Pediatrics respiratory system Respiration Artificial Periventricular nodular heterotopia medicine.anatomical_structure Pulmonary Emphysema Respiratory failure Lung disease Pediatrics Perinatology and Child Health Radiography Thoracic Respiratory Insufficiency Tomography X-Ray Computed business

description

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.

year	journal	country	edition	language
2019-03-01	BMC Pediatrics

https://doi.org/10.1186/s12887-019-1460-4