Nasu–Hakola Disease (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy—PLOSL): A Dementia Associated with Bone Cystic Lesions. From Clinical to Genetic and Molecular Aspects
Leukoencephalopathic alteration in a case of membranous lipodystrophy which involves the systemic adipose tissue has been described. A 44-year-old Japanese man whose parents were consanguinous developed multiple cystic lesions in the limb bones with a pathological fracture, followed by progressive neuropsychiatric symptoms, and died 16 years after the onset of his illness. Brain showed diffuse and symmetrical demyelination of the cerebral white matter, particularly in the fronto-temporal lobes, with preservation of subcortical arcuate fibers, associated with the occurrence of sudanophilic granules within perivascular macrophages and conspicuous fibrous gliosis. The alteration suggests it to be a sudanophilic leukodystrophy. Deposition of calcospherites in the basal ganglia was another interesting remark. This disorder is thought to be associated with an impairment in systemic lipid metabolism affecting both cerebral myelin and fat cell membranes on a heredofamilial backgound.