Case Report: Filamin A deficiency lung disease recognized in an
eleven-year-old child
Abstract
The loss of function of the FLNA gene may result in impairment of the
filamin A protein. Of the many clinical syndromes, this condition may
produce lung disease. This usually presents itself and is diagnosed in
the infant/toddler age group that may mimic broncho-pulmonary-dysplasia.
It is part of the entities included in Childhood Interstitial Lung
Disease (chILD) group of disorders. We are reporting on a patient that
was diagnosed at eleven years of age. This case provides a unique
insight into the long-term course of lung disease in this illness and
broadens our understanding of the spectrum of its presentation. Although
the patient had symptoms very early in life, the diagnosis may not have
been entertained because of the rarity of the disorder, its atypical
presentation, and discontinuous care due to parents moving to different
cities for reasons of employment. Her initial presentation to our
institution was for pneumonia. Due to the highly unusual chest x-ray
images, asthenia, and early clubbing, an extensive work up was
undertaken that included further imaging and a lung biopsy. The final
diagnosis was confirmed by the detection of FLNA LOF gene mutation.