The presence of multiple bone cysts, basal ganglia calcification, and genetic mutations of TYROBP or TREM2 in a pattern of autosomal recessive inheritance could differentiate NHD from hereditary diffuse leukoencephalopathy with spheroids (HDLS; OMIM 221820), a rare autosomal dominant disorder presenting with clinicopathological similarities to NHD, which is caused by genetic mutations in the colony-stimulating factor 1 receptor (CSF1R) gene [8]. Here, CSF1R is linked to Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.