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.
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Merwick, Á., Werring, D.J., Simister, R. (2015). Recurrent Neurological Symptoms Mistaken as Multiple Sclerosis. In: Gill, S., Brown, M., Robertson, F., Losseff, N. (eds) Stroke Medicine. Springer, London. https://doi.org/10.1007/978-1-4471-6705-1_38
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DOI: https://doi.org/10.1007/978-1-4471-6705-1_38
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