A Perez1, M Crahes2, A Laquerrière2, F Proust3, S Derrey3. 1. Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France. Electronic address: alexis.perez@neurochirurgie.fr. 2. Pathology laboratory, Rouen University Hospital Charles-Nicolle, 76000 Rouen, France. 3. Department of neurosurgery, Rouen University Hospital Charles-Nicolle, 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.
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 BRAFV600E mutation suggests that specific therapeutics (BRAF inhibitors) should be considered.