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Fabry heterozygote mimicking multiple sclerosis
  1. Wai Yan Yau1,
  2. Marzena J Fabis-Pedrini2,
  3. Allan G Kermode3
  1. 1Department of Neurology, Royal Free Hospital, Sir Charles Gairdner Hospital, London, UK
  2. 2Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia
  3. 3Department of Neurology, Sir Charles Gairdner Hospital, Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia
  1. Correspondence to Dr Wai Yan Yau, waiyan.yau{at}


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.

  • Neurology
  • Multiple sclerosis
  • Neurogenetics
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  • Contributors WYY, MJF-P and AK contributed equally to the conception and planning of the case report; the drafting and revisions of the manuscript; approval of the final version of the manuscript; and ensured that all questions regarding the accuracy and integrity of the manuscript have been investigated and resolved.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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