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Abstract Details

Imaging Features of Adult-Onset Genetic Leukodystrophies Misdiagnosed as Multiple Sclerosis in Clinical Practice
Multiple Sclerosis
P12 - Poster Session 12 (5:30 PM-6:30 PM)
12-002

Adult-onset gLD are sometimes overlooked in the diagnostic evaluation of MS mimics.

To describe imaging characteristics and evaluate the applicability of the 2017 McDonald MRI criteria in patients with genetic leukodystrophies (gLD) initially misdiagnosed with multiple sclerosis (MS).

We reviewed MRIs on 17 patients referred to a single MS center 2000-2019, who initially carried an MS diagnosis but subsequently were confirmed to have a gLD (MS excluded). MRIs were scored on 4 typical, 10 suggestive, and 15 atypical/non-specific features of MS by an expert neuroradiologist blinded to diagnosis.

A variety of gLDs were diagnosed. All patients had baseline brain (11 gadolinium enhanced (GdE)) and 11 had baseline spinal cord (8 GdE) MRIs available for review. At least one finding typical of MS (periventricular, juxtacortical/cortical, or infratentorial lesions) or one feature suggestive of MS was seen in 16(94%) on baseline brain MRI, most commonly periventricular lesions (76%), MS-like (well delimited, ovoid, > 3mm) lesions (53%), Dawson fingers (29%), and black holes (29%). Atypical/non-specific features were seen in 13(76%), most commonly deep (71%), large/confluent (53%), and symmetric (53%) WMAs. 2(18%) had spinal cord lesions with typical features, one of which also had atypical features. At baseline, 6(35%) met criteria for dissemination in space (DIS) and 2(12%) met both DIS and dissemination in time (DIT). 9 follow-up brain and 7 follow-up spinal cord MRIs were available, after which 6(35%) met DIS (1 additional) and 4(24%) met DIS and DIT (2 additional).

Adult-onset gLD should be included in the differential diagnosis of MS in patients with atypical WMAs, specifically large/confluent WMAs, symmetric lesions, and deep white matter lesions. A quarter of patients with gLD had lesions satisfying 2017 McDonald MRI criteria, plus atypical lesions, emphasizing that the McDonald criteria should be applied with caution when lesions atypical of MS are present.

Authors/Disclosures
Alise K. Carlson, MD (Cleveland Clinic)
PRESENTER
Dr. Carlson has received research support from Biogen (fellowship grant 16696-P-FEL).
Emmanuel Obusez (Cleveland Clinic) No disclosure on file
No disclosure on file
No disclosure on file
Jeffrey A. Cohen, MD (Cleveland Clinic) Dr. Cohen has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Convelo. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astoria. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bristol Myers Squibb. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for FiND. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for INMune. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sandoz. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Celltrion. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Sage.
Gabrielle Macaron, MD (Hotel Dieu de France) Dr. Macaron has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis . Dr. Macaron has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Macaron has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Macaron has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Macaron has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for John Hopkins E-Litterature review. Dr. Macaron has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Macaron has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Macaron has received research support from Biogen Fellowship Grant . The institution of Dr. Macaron has received research support from National MS Society.