title: Fabry disease mimicking multiple sclerosis: Lessons from two case reports.
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.
authors: The Blizard Institute, Barts and the London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK. Electronic address: samshribman@gmail.com.
authors: S E
authors: SE
authors: Shribman
authors: The National Hospital for Neurology and Neurosurgery, Queen square, London, UK.
authors: A R F
authors: AR
authors: Shah
authors: The National Hospital for Neurology and Neurosurgery, Queen square, London, UK.
authors: D J
authors: DJ
authors: Werring
authors: The London Clinic, 145 Harley street, London, UK.
authors: O C
authors: OC
authors: Cockerell
mesh_terms: D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000175:diagnosis*
keywords: Fabry disease; MRI; Multiple sclerosis