OBJECTIVE: Report an unusual presentation of @entity10630 revealed by a severe @entity1640 due to a @entity1640 infiltration and a review of the literature. METHODS: A 28-year-old @entity1 was admitted for a previous three-month history of @entity1395 , @entity353 , and @entity2011 - @entity4683 . Magnetic resonance imaging on @entity2287 T1-weighted sequence revealed a contrast-enhancing @entity1640 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 @entity469 -positive, @entity4896 -negative cytoplasms, and collagen deposition, characteristic of @entity10630 . Despite symptomatic and etiologic treatment, @entity204 occurred within twelve months. CONCLUSION: @entity10630 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 @entity817 @entity8554 mutation suggests that specific therapeutics ( @entity817 inhibitors) should be considered.

Neurological form of XXXX  : Case report and review of the literature.

@entity1 :: ('9606', 'Species') :: ['man'] @entity2011 :: ('MESH:D011141', 'Disease') :: ['polyuria'] @entity353 :: ('MESH:D015431', 'Disease') :: ['weight loss'] @entity1640 :: ('MESH:D007027', 'Disease') :: ['hypothalamic syndrome', 'hypothalamic'] @entity469 :: ('968', 'Gene') :: ['CD68'] @entity10630 :: ('MESH:D031249', 'Disease') :: ['Erdheim-Chester disease'] @entity1395 :: ('MESH:D001247', 'Disease') :: ['asthenia'] @entity4683 :: ('MESH:D059606', 'Disease') :: ['polydipsia'] @entity8554 :: ('p|SUB|V|600|E', 'ProteinMutation') :: ['V600E'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity817 :: ('673', 'Gene') :: ['BRAF'] @entity2287 :: ('MESH:D005682', 'Chemical') :: ['gadolinium'] @entity4896 :: ('909', 'Gene') :: ['CD1a']
@entity10630 :: (MESH:D031249,Disease) :: ['Erdheim-Chester disease']
