Journal article
Fabry heterozygote mimicking multiple sclerosis
BMJ Case Reports
2017
Abstract
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.
Details
- Title
- Fabry heterozygote mimicking multiple sclerosis
- Authors/Creators
- W.Y. Yau (Author/Creator) - Royal Free HospitalM.J. Fabis-Pedrini (Author/Creator) - Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia.A.G. Kermode (Author/Creator) - Sir Charles Gairdner Hospital
- Publication Details
- BMJ Case Reports
- Publisher
- BMJ Publishing Group
- Identifiers
- 991005543935207891
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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