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Neurochirurgie
Volume 60, n° 6
pages 316-320 (décembre 2014)
Doi : 10.1016/j.neuchi.2014.06.012
Received : 18 August 2013 ;  accepted : 6 June 2014
Neurological form of Erdheim-Chester disease : Case report and review of the literature
Atteinte neurologique révélatrice d’une maladie d’Erdheim-Chester
 

A. Perez a, , M. Crahes b, A. Laquerrière b, F. Proust a, S. Derrey a
a Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France 
b Pathology laboratory, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France 

Corresponding author. Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 1, rue de Gérmont, 76000 Rouen, France.
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.

Conclusion

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.

The full text of this article is available in PDF format.
Résumé
Objectifs

Les auteurs rapportent une observation clinique inhabituelle de maladie d’Erdheim-Chester révélée par un syndrome hypothalamique sévère, avec revue de la littérature.

Méthodes

Un homme de 28ans était admis en urgence pour une asthénie récente associée à une perte de poids et un syndrome polyuro-polydipsique. L’IRM cérébrale montrait en séquence-T1 une prise de contraste infiltrant la région hypothalamique jusqu’au plancher du 4e ventricule. Après avoir écarté l’hypothèse d’une lésion germinale par l’étude du liquide céphalo-rachidien, des biopsies stéréotaxiques ont été pratiquées.

Résultats

L’examen histologique retrouvait un infiltrat inflammatoire polymorphe et diffus constitué de polynucléaires éosinophiles et d’histiocytes spumeux CD68-positifs, CD1a-négatifs mêlés à des dépôts de collagène, caractéristiques de la maladie d’Erdheim-Chester. Malgré un traitement hormonal substitutif et un traitement étiologique, le patient décédait l’année suivante de complications neurologiques.

Conclusion

La maladie d’Erdheim-Chester est une histiocytose non-langerhansienne qui atteint habituellement les os longs, les poumons, la région rétropéritonéale, l’orbite et plus rarement le système nerveux central. Son étiologie demeure inconnue et son pronostic est sombre. Néanmoins la description récente de la mutation BRAF V600E permet d’envisager de futures thérapeutiques ciblées (inhibiteurs de BRAF).

The full text of this article is available in PDF format.

Keywords : Erdheim-Chester disease, Brain, Diagnosis, Prognosis, Treatment, Literature review

Mots clés : Maladie d’Erdheim-Chester, Encéphale, Diagnostic, Pronostic, Traitement, Revue de la littérature




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