Abstract

Filamin A is an actin linking protein that has an important role in building the internal network of protein filaments in the cell cytoskeleton. It is involved in cell migration, proliferation and differentiation and plays consequently a key role in the development of multiple organs. Mutations of the filamin A gene affect the brain, heart, connective tissue, skeleton, and blood vessels leading to heterogeneous phenotypes. The variability of clinical presentation appears challenging for an early and correct diagnosis. We present a 12-year-old girl with interstitial lung disease and periventricular nodular heterotopia who was diagnosed with filamin A mutation to discuss the imaging findings in order to familiarize radiologists with this rare multi-system genetic disorder. The aim of this report is to alert radiologists and neuroradiologists that when faced with the combination of interstitial lung disease and periventricular nodular heterotopia in a child, they should suspect filamin A mutations, and a targeted genetic work up should be performed for a definitive diagnosis confirmation.

Keywords: Filamin A mutation; Interstitial lung disease; Periventricular nodular heterotopia; Patent ductus arteriosus; Filamin A deficiency; Pediatric brain MRI

Abbreviations:CT: Computed Tomography; DEXA: Dual Energy X-ray Absorptiometry; FLNA: Filamin A; GOF: Gain Of Function; ILD: Interstitial Lung Disease; LAM: Lymphangioleiomyomatosis; LOF: Loss Of Function; OPD-SD: Oto-Palato-Digital Spectrum Disorders MRI: Magnetic Resonance Imaging; PDA: Patent Ductus Arteriosus; PNH: Periventricular Nodular Heterotopia