Pathological hallmarks of CSF1R-related leukoencephalopathy, also described as pigmented orthochromatic leukodystrophy (POLD), portray giant axonal swellings (spheroids), pigmented macrophages, loss of axons and myelin sheaths within the cerebral white matter [1, 3–5]. This evidence concerns the gene CSF1R and Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.