Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis

CSF1R-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 CSF1R-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.

Automated summary

This case report highlights the unusual presentation of CSF1R-related leukoencephalopathy initially diagnosed as multiple sclerosis, emphasizing the importance of considering adult-onset neurogenetic disorders in differential diagnosis.