To define the neuroimaging (MRI+CT) signature of CSF1R-related disorder, to establish imaging discriminators that should prompt early genetic evaluation. 

CSF1R-related disorder usually presents with adult-onset rapidly progressive white matter disease, seizures, and cognitive decline, a phenotype that usually triggers initial autoimmune workup and empiric immunotherapy in clinical practice. Key discriminating imaging features, including parenchymal calcifications and diffusion changes, remain underutilized in autoimmune neurology workflows, contributing to diagnostic delay.

A 37-year-old male presented with a four-year history of progressive neurologic disorder characterized by seizures, asymmetric weakness of extremities, dysarthria, urinary urgency, cognitive decline, and behavioral changes.  Physical exam demonstrated asymmetric spasticity and extrapyramidal involvement with rigidity and dystonia.

CSF1R-related disorder has clinical and radiological overlap with autoimmune/inflammatory white matter disorders.  Variability in the clinical spectrum and reduced penetrance with the absence of family history often leads to delay in suspicion and diagnostic evaluation.  Identification of the radiologic hallmarks is paramount in prompting early genetic referral and consideration of potential treatment options including hematopoietic stem cell transplantation.