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Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis
  1. Claire Allen1,
  2. Kirsty Armstrong2,
  3. David Game3,
  4. Lucy Kinton1
  1. 1Wessex Neurological Centre, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  2. 2Department of Nephrology, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  3. 3Department of Nephrology, Guy's and St Thomas' NHS Foundation Trust, London, UK
  1. Correspondence to Dr Claire Allen, Wessex Neurological Centre, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK; c-allen{at}doctors.org.uk

Abstract

Cystinosis is a lysosomal storage disorder usually presenting with renal disease in infancy. As soon as the diagnosis is made, cysteamine (a cystine-depleting medication), is started, significantly improving life expectancy. We describe a young woman taking lifelong cysteamine for nephropathic cystinosis, who became acutely encephalopathic with a spastic tetraparesis secondary to cysteamine toxicity, which was potentially worsened by copper deficiency. On replacing copper and reducing the dose of cysteamine, she made a full neurological recovery. We discuss the case, and review cystinosis and what is known about cysteamine toxicity.

  • Cysteamine
  • Cystinosis
  • COPPER

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Footnotes

  • Contributors CA wrote the draft manuscript and produced figures 2 and 3. LK revised the manuscript from a neurological perspective. KA and DG revised the manuscript from a renal perspective. All authors approved the final version to be published.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests LK has received support to attend a meeting from UCB Pharma as well as speaking honoraria for a lecture given at the meeting. DG is on the advisory board for Recordati and Chiesi and has received speaker fees from Recordati and Chiesi.

  • Provenance and peer review Not commissioned; externally reviewed by Elaine Murphy, London, UK.