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Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis
Aarushi Jain1, Vito P Arena1, Connolly Steigerwald1
1From the Division of Neurogenetics (A.J., C.S., N.J.A.), Department of Neurology, NYU Grossman School of Medicine; Lincoln Memorial University DeBusk College of Osteopathic Medicine (A.J.), Harrogate, TN; Multiple Sclerosis Comprehensive Care Center (V.P.A., I.K.), Department of Neurology; and Division of Neuroradiology (M.J.B.), Department of Radiology, NYU Grossman School of Medicine, New York,.
Abstract:
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.
Insights
Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, a rare neurologic disorder, can present unusually with spinal cord issues. Early genetic testing is crucial for diagnosing adult-onset white matter diseases like this condition.
Area of Science:
- Neurology
- Neurogenetics
- Immunology
Background:
- Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an autosomal dominant neurologic disorder.
- It is characterized by microglial dysfunction leading to diverse neurological complications such as motor dysfunction, dementia, and seizures.
- White matter diseases encompass a range of conditions affecting the brain's white matter.
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