Journal of Neurology

, Volume 253, Issue 10, pp 1267–1277

Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature


    • Dept. of Internal MedicineCentre Hospitalier Lyon Sud
  • François Cotton
    • Dept. of RadiologyMRI Center, Centre Hospitalier Lyon Sud
  • Hélène Desmurs-Clavel
    • Dept. of Internal MedicineHôpital Edouard Herriot
  • Julien Haroche
    • Dept. of Internal MedicineHôpital Pitié-Salpétrière
  • Hervé Taillia
    • Dept. of NeurologyHôpital d’Instruction des Armées du Val de Grâce
  • Nadine Magy
    • Dept. of Internal MedicineHôpital Jean Minjoz
  • Mohamed Hamidou
    • Dept. of Internal MedicineMohamed Hamidou
  • Juan Salvatierra
    • Dept. of RheumatologyUniversity Hospital Virgen de las Nieves
  • Jean-Charles Piette
    • Dept. of Internal MedicineHôpital Pitié-Salpétrière
  • Denis Vital-Durand
    • Dept. of Internal MedicineCentre Hospitalier Lyon Sud
  • Hugues Rousset
    • Dept. of Internal MedicineCentre Hospitalier Lyon Sud

DOI: 10.1007/s00415-006-0160-9

Cite this article as:
Lachenal, F., Cotton, F., Desmurs-Clavel, H. et al. J Neurol (2006) 253: 1267. doi:10.1007/s00415-006-0160-9


Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI. A literature review revealed 60 other cases of ECD with neurological involvement. We therefore analyzed 66 ECD patients with neurological involvement. Cerebellar and pyramidal syndromes were the most frequent clinical manifestations (41% and 45% of cases), but seizures, headaches, neuropsychiatric or cognitive troubles, sensory disturbances, cranial nerve paralysis or asymptomatic lesions were also reported. Neurological manifestations were always associated with other organ involvement, especially of bones (at least 86%) and diabetes insipidus (47%). Neurological involvement was responsible for severe functional handicaps in almost all patients and was responsible for the death of 6 of the 66 patients (9%). Neuroradiological findings could be separated into three patterns: the infiltrative pattern (44%), with widespread lesions, nodules or intracerebral masses, the meningeal pattern (37%), with either thickening of the dura mater or meningioma-like tumors, and the composite pattern (19%), with both infiltrative and meningeal lesions.


Erdheim-Chester diseasebraindura materMRI

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© Steinkopff Verlag Darmstadt 2006