An insight of lung cysts with filamin A mutation

Abstract

Introduction: Filamin A (FLNa) is the first actin filament cross-linking protein identified in non-muscle cells. Mutations in the X-linked gene encoding filamin A (FLNA) cause cerebral periventricular nodular heterotopia, cardiac valvular disease and skeletal anomalies to a variable degree; recently lung involvement has been defined and emphysematous lesions in lung parenchyma are the characteristic findings of this mutation. Case Report: Here we present the clinical, radiological, and pathological features of five children that we think clinical findings may be associated with FLNA mutation. All presented with cough at ages of five, six, ten and eight years. One patient had exercise induced dyspnea. Chest X-ray and chest CT showed multiple lung cysts in three patients and emphysematous changes in one patient. One patient had intracranial cyst and two patients had sensorineural hearing defect. Joint hypermobility was positive in two patients. Lung biopsy has been performed and emphysematous changes revealed out in this patient. Genetic analysis is being processed now. Conclusion: We think that these severe lung manifestations may have resulted from FLNA mutation. Extra-neurological features have already been described in patients with X-linked periventricular nodular heterotopia, and lung manifestations may be another expression of this multisystem disorder. The occurrence of emphysema, aortic aneurysm, joint hypermobility, skeletal dysplasia, otopalatodigital spectrum disorders, epilepsia, dyslexia should be considered that FLNA can cause this phenotype.