Fabry disease mimicking multiple sclerosis: Lessons from two case reports

Multiple Sclerosis and Related Disorders
S E ShribmanO C Cockerell

Abstract

Fabry disease is an X-linked lysosomal storage disorder that can mimic multiple sclerosis. We present two cases of heterozygous adult women where clinical and radiological features initially suggested a diagnosis of multiple sclerosis. This led us to review the early clinical course and neurological features of Fabry disease and highlight the importance of assessing non-neurologic (systemic) symptoms when considering a diagnosis of multiple sclerosis and the need for specialist interpretation of neuroradiological findings.

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Nov 6, 2018·Insights Into Imaging·Sirio CocozzaArturo Brunetti
Oct 14, 2016·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·K V Firsov, A S Kotov
Oct 21, 2020·Journal of Neurology·D LyndonD J Werring
Jun 22, 2021·Postgraduate Medicine·Chueh Lin HsuWojciech Kozubski

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