The proband exhibited gait problems, developmental regression (DQ 46.6), and an abnormal occipital cistern via head MRI at the age of 4, consistent with PLA2G6-linked infantile neuroaxonal dystrophy 1 (OMIM#256600), suggesting the unidentified CNV could be genuine. This evidence concerns the gene PLA2G6 and neurodegeneration with brain iron accumulation 2A.