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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

MedGen UID:
387795
Concept ID:
C1857316
Disease or Syndrome
Synonyms: Brain-bone-fat disease; Dementia, prefrontal, with bone cysts; Dementia, progressive, with lipomembranous polycystic osteodysplasia; Nasu-Hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; Presenile dementia with bone cysts
SNOMED CT: Presenile dementia with bone cysts (702347001); PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (702347001); Nasu-Hakola disease (702347001); Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (702347001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009092
OMIM® Phenotypic series: PS221770
Orphanet: ORPHA2770

Disease characteristics

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1. The latent stage is characterized by normal early development. 2. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social problems. 4. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years. [from GeneReviews]
Authors:
Juha Paloneva  |  Taina Autti  |  Panu Hakola, et. al.   view full author information

Additional description

From OMIM
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life (summary by Kondo et al., 2002). Genetic Heterogeneity of Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Also see PLOSL2 (618193), caused by mutation in the TREM2 gene (605086) on chromosome 6p21.  http://www.omim.org/entry/221770

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Follow this link to review classifications for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly in Orphanet.

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