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

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Abstract

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.

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Authors and Affiliations

  1. Dept. of Internal Medicine, Centre Hospitalier Lyon Sud, 69495, Pierre-Bénite, Cedex, France

    Florence Lachenal MD, Denis Vital-Durand MD & Hugues Rousset MD

  2. Dept. of Radiology, MRI Center, Centre Hospitalier Lyon Sud, Pierre-Bénite, Cedex, France

    François Cotton MD, PhD

  3. Dept. of Internal Medicine, Hôpital Edouard Herriot, Lyon, France

    Hélène Desmurs-Clavel MD

  4. Dept. of Internal Medicine, Hôpital Pitié-Salpétrière, Paris, France

    Julien Haroche MD, PhD & Jean-Charles Piette MD

  5. Dept. of Neurology, Hôpital d’Instruction des Armées du Val de Grâce, Paris, France

    Hervé Taillia MD

  6. Dept. of Internal Medicine, Hôpital Jean Minjoz, Besançon, France

    Nadine Magy MD

  7. Dept. of Internal Medicine, Mohamed Hamidou, Nantes, France

    Mohamed Hamidou MD

  8. Dept. of Rheumatology, University Hospital Virgen de las Nieves, Granada, Spain

    Juan Salvatierra MD, PhD

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  1. Florence Lachenal MD
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  2. François Cotton MD, PhD
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Correspondence to Florence Lachenal MD.

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Received in revised form: 21 October 2005

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Lachenal, F., Cotton, F., Desmurs-Clavel, H. et al. Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. J Neurol 253, 1267–1277 (2006). https://doi.org/10.1007/s00415-006-0160-9

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