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

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...

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Bibliographic Details
Published in:Multiple sclerosis 2008-08, Vol.14 (7), p.1003-1006
Main Authors: Invernizzi, P, Bonometti, MA, Turri, E, Benedetti, MD, Salviati, A
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cerebral Ventricles - pathology
Corpus Callosum - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Evoked Potentials, Visual
Fabry Disease - complications
Fabry Disease - genetics
Fabry Disease - pathology
Family Health
Female
Humans
Magnetic Resonance Imaging
Medical sciences
Multiple Sclerosis - complications
Multiple Sclerosis - genetics
Multiple Sclerosis - pathology
Neurology
Pedigree
Spinal Cord - pathology
Tumors of the nervous system. Phacomatoses
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Summary: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.
ISSN:1352-4585
1477-0970
DOI:10.1177/1352458508092355