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Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease
  1. S M Gregoire1,
  2. M M Brown1,
  3. D M Collas2,
  4. P Jacob2,
  5. R H Lachmann3,
  6. D J Werring1
  1. 1
    Stroke Research Group, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
  2. 2
    Department of Medicine, Watford General Hospital, Watford, UK
  3. 3
    Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
  1. Correspondence to Dr S M Gregoire, Stroke Research Fellow, Box 6, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; s.gregoire{at}

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Fabry disease is a multisystem lysosomal storage disorder with serious effects including cardiomyopathy and renal failure. Although neurological involvement at presentation is unusual, it is increasingly recognised that Fabry disease may present with ischaemic strokes and may be responsible for up to 5% of cryptogenic strokes in young men.1 Early recognition is vital to permit early therapeutic intervention and family screening, and could prevent clinical progression and recurrent stroke. We report a patient who presented with recurrent brainstem ischaemic strokes due to Fabry disease, with no evidence of systemic manifestations at presentation. Fabry disease should be considered in cases of cryptogenic stroke (especially young men with vertebrobasilar territory symptoms) even without multisystem involvement.

Case report

In January 2007, a 24-year-old man was admitted with sudden rotatory vertigo and nausea. He reported three previous similar episodes. In 2004, he had diplopia for 5 days; later that year, he experienced transient vertigo and gait ataxia. The third episode occurred in February 2005, when he suffered the abrupt onset of unsteadiness, nausea, slurred speech and right-sided weakness. An MRI scan of the brain at this time showed a lesion of high signal on T2-weighted images in the left pons; MR angiography, carotid duplex scan and transoesophageal echocardiogram (TOE) were normal. Demyelination was considered, but when a cerebrospinal fluid (CSF) examination failed to show oligoclonal bands, a diagnosis of probable cryptogenic stroke was made. …

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  • Funding SMG’s work at Queen Square is funded by the Stroke Association. MB’s Chair in Stroke Medicine is supported by The Reta Lila Weston Trust for Medical Research. DW is supported by a HEFCE/Department of Health Clinical Senior Lecturer Award. This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres funding scheme.

  • Competing interests None.

  • Patient consent Obtained.

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