Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

BMC Res Notes. 2015 Apr 30;8:171. doi: 10.1186/s13104-015-1135-7.


Background: Erdheim-Chester disease is a rare histiocytosis characterized by multi-systemic organ involvement. Immune-modulating agents such as interferon-alpha have limited success and the disorder is progressive and causes high morbidity and mortality. Treatment with the BRAF-inhibitor vemurafenib has recently produced substantial improvement in three patients with Erdheim-Chester disease expressing the p. V600E BRAF mutation. The disorder commonly affects the central nervous system and it is not yet known whether vemurafenib can reverse intra-axial infiltration and the resulting neurological impairment.

Case presentation: In this work, we report for the first time an excellent clinical response to vemurafenib in a Norwegian patient with debilitating progressive spastic paraparesis due to intra-axial infiltration of the thoracic spinal cord. The patient had been unresponsive to interferon-alpha. Low dose vemurafenib (720 mg daily) for a period of three months resulted in significant tumor shrinkage by >60% and regression of contrast enhancement and fluorodeoxyglucose uptake on positron-emission tomography. The patient's spastic paraparesis and gait function improved dramatically. She currently walks unaided and reports a substantially improved quality of life.

Conclusion: Our findings show that vemurafenib therapy, even at low doses, can be effective for the treatment of intra-axial central nervous system involvement in BRAF-positive Erdheim-Chester disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Erdheim-Chester Disease / drug therapy*
  • Female
  • Humans
  • Indoles / therapeutic use*
  • Spine / pathology*
  • Sulfonamides / therapeutic use*
  • Treatment Outcome
  • Vemurafenib


  • Indoles
  • Sulfonamides
  • Vemurafenib