You are here

Article Text

Article menu
Download PDFPDF
Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease
  1. Amir Rafati Fard,
  2. Juliet Thornton and
  3. Alasdair Coles
  1. Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
  1. Correspondence to Professor Alasdair Coles; alasdair.coles{at}nhs.net

Abstract

We report a case of BRAF-mutation positive Erdheim-Chester disease presenting with a cerebellar ataxia. This is the first such case to be reported without structural MRI abnormalities but with a single intrathecally produced oligoclonal band. Now that the histiocytoses have been recharacterised as neoplastic, we speculate that the mechanism of the ataxia in our case is paraneoplastic. We highlight the importance of searching for BRAF mutations in this disease, as their presence leads to effective personalised treatments.

  • Neurology
  • Brain stem / cerebellum
  • Movement disorders (other than Parkinsons)
  • Neurooncology

http://dx.doi.org/10.1136/bcr-2023-255681

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • ARF and JT are joint first authors.

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: ARF, JT and AC. The following author gave final approval of the manuscript: AC.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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