Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

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

Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Metabolic Skin Diseases: 1
    - Lipodystrophy: 2323
      - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Lipid Metabolism Disorders: 987
    - Lipodystrophy: 2323
      - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
  - Metabolic Skin Diseases: 1
    - Lipodystrophy: 2323
      - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Osteochondrodysplasias: 604
      - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Osteochondrodysplasias: 604
    - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
Infections: 539155
- Virus Diseases: 42919
  - RNA Virus Infections: 309
    - Mononegavirales Infections: 1
      - Paramyxoviridae Infections: 1496
        Morbillivirus Infections: 28
        Measles: 9320
        Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
  - Central Nervous System Viral Diseases: 47
    - Viral Encephalitis: 480
      - Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
  - Slow Virus Diseases: 9
    - Subacute Sclerosing Panencephalitis: 966
      - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
- Central Nervous System Infections: 1428
  - Infectious Encephalitis: 58
    - Viral Encephalitis: 480
      - Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
  - Central Nervous System Viral Diseases: 47
    - Viral Encephalitis: 480
      - Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
Nervous System Diseases: 14737
- Neuroinflammatory Diseases: 19509
  - Encephalitis: 8670
    - Infectious Encephalitis: 58
      - Viral Encephalitis: 480
        Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Encephalitis: 8670
      - Infectious Encephalitis: 58
        Viral Encephalitis: 480
        Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
  - Central Nervous System Infections: 1428
    - Infectious Encephalitis: 58
      - Viral Encephalitis: 480
        Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34
    - Central Nervous System Viral Diseases: 47
      - Viral Encephalitis: 480
        Subacute Sclerosing Panencephalitis: 966
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: 34

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