title: A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?
abstract: We present the case of a 36-year-old woman affected with Fabry disease (FD), with neuroradiologic and laboratory tests suggestive of a coexistent inflammatory demyelinating disease. Since the age of 23, she presented recurrent neurologic deficits, such as right limb paresthesias, diplopia, and right leg weakness. Magnetic resonance imaging revealed multiple demyelinating lesions in periventricular areas, corpus callosum, and spinal cord. Cerebrospinal fluid analysis showed the presence of oligoclonal bands, while visual-evoked potentials were delayed with preserved morphology. FD is usually considered as a differential diagnosis of multiple sclerosis, but we think that the best explanation of all pathological features in this case is the coexistence of the two diseases.
authors.affiliation: Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy. p_invernizzi@yahoo.it
authors.forename: P
authors.initials: P
authors.lastname: Invernizzi
authors.forename: M A
authors.initials: MA
authors.lastname: Bonometti
authors.forename: E
authors.initials: E
authors.lastname: Turri
authors.forename: M D
authors.initials: MD
authors.lastname: Benedetti
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000328:Adult; D002552:Cerebral Ventricles / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D005074:Evoked Potentials, Visual; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009103:Multiple Sclerosis / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology