Pearls & Oy-sters: <i>CSF1R</i>-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 37407261.
- Also identified by DOI 10.1212/WNL.0000000000207502 and PMC identifier 10513882.
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Abstract
<i>CSF1R</i>-related leukoencephalopathy is an autosomal dominant neurologic disorder causing microglial dysfunction with a wide range of neurologic complications, including motor dysfunction, dementia, and seizures. This case report highlights an unusual presentation of <i>CSF1R</i>-related leukoencephalopathy with radiographic spinal cord involvement initially diagnosed as multiple sclerosis. This case highlights the importance of considering adult-onset neurogenetic disorders in the setting of white matter disease. Genetic testing provides a confirmatory diagnosis for an expanding number of adult-onset leukoencephalopathies and informs therapeutic decision-making.
Medical subject headings
- Multiple Sclerosis
- Leukoencephalopathies