A rare hereditary autosomal recessive disorder characterized by cyst-like bone changes visible on x-rays beginning in the patient's 20s as well as bone fractures and pain in the ankles, feet, wrists, and hands. Brain abnormalities present in the patient's 30s and are characterized by LEUKOENCEPHALOPATHY, cognitive and behavioral changes, DEMENTIA and ATAXIA. Mutations in the TYROBP and TREM2 genes have been identified. OMIM: 221770
Also Known As:
Brain-bone-fat disease; Dementia, prefrontal, with bone cysts; Dementia, progressive, with lipomembranous polycystic osteodysplasia; Nasu-Hakola disease; PLOSL; Plo-Sl; Presenile dementia with bone cysts