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

BMC Pediatr. 2019 Mar 29;19(1):86. doi: 10.1186/s12887-019-1460-4.

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.

Keywords: Children; Congenital enphysema; Filamin a; Lung disease; Periventricular nodular heterotopia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Filamins / genetics*
  • Humans
  • Infant
  • Loss of Function Mutation*
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases / congenital*
  • Lung Diseases / genetics
  • Male
  • Periventricular Nodular Heterotopia / genetics*
  • Pulmonary Emphysema / complications
  • Pulmonary Emphysema / congenital
  • Radiography, Thoracic
  • Respiration, Artificial
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / therapy
  • Tomography, X-Ray Computed

Substances

  • FLNA protein, human
  • Filamins