AI Summary
The text describes a case of an autosomal dominant neurologic disorder called CSF1R-related leukoencephalopathy, which causes various neurologic complications. The case report emphasizes the importance of considering adult-onset neurogenetic disorders in cases of white matter disease and using genetic testing for diagnosis and treatment decisions.
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.