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Case report
Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvement
  1. Gorka Fernández-Eulate1,2,
  2. Amaia Muñoz-Lopetegi1,
  3. Irune Ruiz3 and
  4. Miguel Urtasun1
  1. 1 Neurology Department, Hospital Universitario Donostia, San Sebastian, Spain
  2. 2 Maurice Wohl Neuroscience Institute, King's College London, London, UK
  3. 3 Pathology Department, Hospital Universitario Donostia, San Sebastian, Spain
  1. Correspondence to Mr Gorka Fernández-Eulate; gorkaeulate{at}


Erdheim-Chester disease (ECD) is a rare histiocytosis that may affect the central nervous system (CNS). Infiltration by the disease occurs throughout the neuroaxis, usually involving the dentate nucleus and the pons, manifested as a pyramido-cerebellar syndrome. CNS involvement is an adverse prognostic factor which warrants prompt evaluation and treatment. BRAF mutation occurs in more than half of the cases and has become central in the therapeutic approach. There is rapidly growing evidence that BRAF inhibitors such as vemurafenib or dabrafenib are effective in treating CNS-spread disease. We present a patient with BRAF-V600E-mutant ECD with a classical pyramido-ataxic onset of disease who improved after prompt diagnosis with vemurafenib treatment as first-line therapy.

  • brain stem / cerebellum
  • haematology (incl blood transfusion)

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  • Contributors GF-E and MU contributed by filing and acquiring all the information and figures, as well as writing the manuscript. AM-L contributed by editing the information. IR contributed with anatomopathological figures and descriptions.

  • 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 None declared.

  • Patient consent for publication Obtained.

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