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Multiple Sclerosis
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Article

A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?

P Invernizzi*, M A Bonometti, E Turri, M D Benedetti, and A Salviati

Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy

* To whom correspondence should be addressed.


  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.

Key Words: evoked potentials, Fabry disease, magnetic resonance imaging, multiple sclerosis, oligoclonal bands, white matter lesions

First published on July 16, 2008, doi:10.1177/1352458508092355

Multiple Sclerosis 2008;14:1003.

A more recent version of this article appeared on August 1, 2008

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