Purpose or Case Report: To evaluate the radiographic and CT appearances of filamin A (FLNA) mutation related lung disease and review the available medical literature regarding this new entity.
Methods & Materials: Interstitial lung disease (ILD) in infants represents a rare and heterogenous group of disorders, distinct from those occurring in adults. In recent years filamin A (FLNA) mutation related lung disease has been recognized as a new entity within the ChILD classification scheme. A well-known association already exists between FLNA mutation and disorders of neuronal migration, vascular function and skeletal development however pulmonary manifestations are only now becoming evident, and are important as they significantly contribute to morbidity and mortality.

Fewer than 10 cases have been described in the literature with radiographic features mimicking those of congenital lobar over inflation. In some cases treatment has involved either lobar resection or lung transplantation. Given the progressive nature of this disease and potentially fatal outcomes, we present our own case series of four patients with confirmed FLNA mutation and associated pulmonary manifestations. We also outline the radiological features and clinical course of these patients and their management, with the aim of raising diagnostic awareness and improving early identification of this rare entity.
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