title: Neurological form of Erdheim-Chester disease : Case report and review of the literature.
abstract: OBJECTIVE
  Report an unusual presentation of Erdheim-Chester disease revealed by a severe hypothalamic syndrome due to a hypothalamic infiltration and a review of the literature.
  
  
  METHODS
  A 28-year-old man was admitted for a previous three-month history of asthenia, weight loss, and polyuria-polydipsia. Magnetic resonance imaging on gadolinium T1-weighted sequence revealed a contrast-enhancing hypothalamic mass extending to the floor of the fourth ventricle. Cerebrospinal fluid examination was not suggestive of a germinal lesion. Lung nodules were found on thoracic CT-scan but due to their small size, brain stereotactic biopsies were required.
  
  
  RESULTS
  Histological examination revealed a diffuse polymorphic inflammatory infiltrate including numerous foamy histiocytes which displayed large eosinophilic CD68-positive, CD1a-negative cytoplasms, and collagen deposition, characteristic of Erdheim-Chester disease. Despite symptomatic and etiologic treatment, death occurred within twelve months.
  
  
  CONCLUSIONS
  Erdheim-Chester disease is a rare multisystem non-Langerhans cell histiocytosis which typically affects long bones, lung, retroperitoneal and orbital spaces and less frequently primary central nervous system. The pathogenesis of the disease remains unknown and no significant prognostic factor has been correlated with survival time. The recently reported BRAF V600E mutation suggests that specific therapeutics (BRAF inhibitors) should be considered.
authors.affiliation: Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France. Electronic address: alexis.perez@neurochirurgie.fr.
authors.forename: A
authors.initials: A
authors.lastname: Perez
authors.affiliation: Pathology laboratory, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France.
authors.forename: M
authors.initials: M
authors.lastname: Crahes
authors.affiliation: Pathology laboratory, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France.
authors.forename: A
authors.initials: A
authors.lastname: Laquerrière
authors.affiliation: Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France.
authors.forename: F
authors.initials: F
authors.lastname: Proust
authors.affiliation: Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France.
authors.forename: S
authors.initials: S
authors.lastname: Derrey
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis*; D031249:Erdheim-Chester Disease / Q000175:diagnosis*; D017809:Fatal Outcome; D006801:Humans; D008297:Male
keywords: Brain; Diagnosis; Diagnostic; Encéphale; Erdheim-Chester disease; Literature review; Maladie d’Erdheim-Chester; Prognosis; Pronostic; Revue de la littérature; Traitement; Treatment