Fabry heterozygote mimicking multiple sclerosis

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Fabry's disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. We present a case of FD in a 65-year-old woman masquerading as benign MS for 40 years. She has recurrent posterior circulation stroke-like symptoms, hearing loss and acroparaesthesia, but typical radiological features of MS on MRI brain. Later she developed an ischaemic stroke, infiltrative cardiomyopathy and chronic renal failure. There was a missense mutation at p.R342Q in the galactodisdase alpha (GLA) gene. Neurologists need to consider FD and look for red flags in atypical MS cases and should not be over-reliant on MRI findings. Missed diagnosis of FD could lead to unnecessary immunosuppression, inappropriate disease counselling and missed treatment opportunity.

Original languageEnglish
Article number220274
JournalB.M.J. Case Reports
Publication statusPublished - 2 Jun 2017


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