Recurrent neurological symptoms mistaken as multiple sclerosis

Abstract

Fabry’s is an X-linked lysosomal storage disease. It can manifest a variable phenotype including cerebrovascular disease in heterozygous females, Diagnosis in female heterozygotes is challenging, as it may mimic atherosclerotic disease and/or small vessel vasculopathy, and alpha-galactosidase levels may be normal. This case of a 47-year-old female with recurrent symptoms over 22 years, including episodic diplopia and bilateral sensory symptoms, demonstrates the challenges of diagnosis. α-GAL genetic analysis should be considered in women with atypical presentations of cerebrovascular disease, and suggestive family history.