Multiple sclerosis (MS) is often suspected in patients with multifocal white matter lesions, but not all such cases are inflammatory in origin. This review on the AAN Continuum by WM Rounds members Gabrielle Macaron and Roberta La Piana highlights how adult-onset leukodystrophies, which are genetic white matter disorders, can sometimes resemble MS both clinically and radiologically.
With the increasing availability of next-generation sequencing, more adults are being diagnosed with leukodystrophies that were previously overlooked. Recognizing the distinctive features of adult-onset leukodystrophies mimicking MS is crucial. Misdiagnosis can lead to inappropriate treatment and delayed access to genetic counseling or targeted care. The authors emphasize key clinical and radiologic “red flags” that can help guide diagnosis. As highlighted in this review, International networks such as the WM Rounds Network are critical in helping clinicians and radiologists with challenging cases of adult-onset genetic mimickers of MS. A podcast episode discussing this work is available here (access may be limited).
