Erdheim-Chester disease: A challenging diagnosis for an effective therapy

•Pituitary gland and ponto-cerebellar system involvement is typical of ECD patients;•Diagnosis is based on imaging findings, histopathological and molecular analysis;•BRAF mutations in ECD patients allow treatment with vemurafenib.

Saved in:
Bibliographic Details
Published in:Clinical neurology and neurosurgery 2020-07, Vol.194, p.105841, Article 105841
Main Authors: Todisco, Antonio, Cavaliere, Carlo, Vaglio, Augusto, Marano, Massimo, Bonometti, Arturo, Passoni, Emanuela, Berti, Emilio, Cirillo, Mario, Cirillo, Giovanni
Format: Article
Language:English
Subjects:
Ataxia
Autoimmune diseases
BRAF
Coronary vessels
Diagnosis
Dysarthria
Dysphagia
Enzyme inhibitors
Erdheim-Chester disease
Etiology
Extracellular signal-regulated kinase
Histiocytosis
Kinases
Limbs
MAP kinase
MEK inhibitors
Mutation
Neurology
non-Langerhans cell histiocytosis
Patients
Pelvis
Pituitary gland
Ponto-cerebellar syndrome
Protein kinase
Quality of life
Raf protein
Scapula
Signal transduction
Vemurafenib
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:•Pituitary gland and ponto-cerebellar system involvement is typical of ECD patients;•Diagnosis is based on imaging findings, histopathological and molecular analysis;•BRAF mutations in ECD patients allow treatment with vemurafenib.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2020.105841