| Literature DB >> 25787193 |
S E Shribman1, A R F Shah2, D J Werring2, O C Cockerell3.
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.Entities:
Keywords: Fabry disease; MRI; Multiple sclerosis
Mesh:
Year: 2015 PMID: 25787193 DOI: 10.1016/j.msard.2015.01.001
Source DB: PubMed Journal: Mult Scler Relat Disord ISSN: 2211-0348 Impact factor: 4.339