Erdheim-Chester disease, an incredible simulator. Cases reports and review of literature

• Published in: Neurocirugía (Asturias, Spain) Vol. 27; no. 6; pp. 296 - 303
• Main Authors: Rascón-Ramírez, Fernando J, Avecillas-Chasín, Josué M, Rodríguez-Boto, Gregorio, Subhi-Issa, Issa, Salazar A, Osman A, Sallabanda D, Kita
• Format: Journal Article
• Language: Spanish
• Published: Spain 01.11.2016
• Subjects: Child, Preschool; Erdheim-Chester Disease - complications; Erdheim-Chester Disease - diagnosis; Humans; Magnetic Resonance Imaging; Pain - etiology; Regresión neoplásica espontánea; Enfermedad de Erdheim-Chester; Enfermedades cerebrales; Lymphatic diseases; Brain metastasis; Enfermedades linfáticas; Spontaneous neoplasm regression; Erdheim-Chester disease; Metástasis cerebral; Brain diseases
• ISSN: 1130-1473
• DOI: 10.1016/j.neucir.2016.02.009

Erdheim-Chester disease is a non-Langerhans histiocytosis. Until 2014 at least 550 cases have been reported. According to European Rare Disease Organization and National Organization for Rare Disorders it is a rare disease. The most common symptom is bone pain in the lower extremities and it usually appears between the 5th and 7th decades of life. The diagnostic is based on immunohistochemical results: S100(+/-), CD68(+), and CD1a(-), the latter 2 are mandatory. The best treatment nowadays is alpha-interferon or pegylated alpha-2. The overall survival is 96% at one year and 68% at 5 years. Central nervous system involvement is associated with a worse outcome. Two cases are presentedwith central nervous system lesions in the absence of lesions in other organs on their onset. Very few cases have been reported with this kind of presentation. We also noted that these patients had recurrences or new lesions at 8 months. A follow-up is proposed with brain MRI and thoraco-abdominal PET every 3-4 months.