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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Lipodystrophy
*Osteochondrodysplasias
*Subacute Sclerosing Panencephalitis
Frequency
45
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 Preferred
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