MeSH Browser

MeSH Supplementary: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Unique ID: C536329
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536329
Entry Term(s): 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
Heading Mapped to: *Lipodystrophy; *Osteochondrodysplasias; *Subacute Sclerosing Panencephalitis
Frequency: 49
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy MeSH Supplementary Concept Data 2024