Erdheim-Chester Disease Newsfeed

Donate

Erdheim-Chester disease Newsfeed

pubmed: erdheim chester dise…

NCBI: db=pubmed; Term=erdheim chester disease

Icon for HighWireRelated Articles

Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvement.

BMJ Case Rep. 2019 Nov 19;12(11):

Authors: Fernández-Eulate G, Muñoz-Lopetegi A, Ruiz I, Urtasun M

Abstract
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.

PMID: 31748352 [PubMed – in process]

HistioUK

Your support is vital to ensure that we can continue to deliver our Research and Information Programs. Thank you.

Make a donation