Clinical Guidance

Individuals with homozygous pathogenic variants in TYROBP or TREM2 develop similar CNS manifestations . Some TREM2 pathogenic variants have been reported to cause a dementia syndrome resembling PLOSL without evident osseous manifestations .

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Diagnostic Criteria

No consensus clinical diagnostic criteria for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) have been published.

Suggestive Findings

PLOSL should be suspected in individuals with the following features:

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Differential Diagnosis

The combination of frontal-type dementia beginning in the fourth decade and radiologically demonstrable polycystic osseous lesions makes it easy to clinically distinguish polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) from the established forms of familial and nonfamilial frontotemporal dementia (e.g., Pick disease, nonspecific frontal lobe degeneration, CSF1R adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and the various entities of frontotemporal dementia and parkinsonism linked to pathogenic variants in MAPT).

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Management Guidelines

No clinical practice guidelines for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PLOSL, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Surveillance Guidelines

The interval of surveillance for bone lesions, neurologic, and psychiatric manifestations must be determined individually.

Table 5.

Recommended Surveillance for Individuals with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

System/Concern | Evaluation | Frequency

Polycystic osseous lesions

| Clinical eval for evidence of fractures | Must be determined on an individual basis

Neurologic manifestations

| Neurologic exam

Psychiatric manifestations

| Neuropsychological exam

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"