Erdheim-Chester Disease Involving the Central Nervous System with Latent Toxoplasmosis

Abstract

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes into multiple organs. We herein report a case of ECD with central nervous system (CNS) involvement in a 63-year-old man who also presented a positive result for Toxoplasma gondii nested polymerase chain reaction testing of cerebrospinal fluid. Since anti-Toxoplasma treatment proved completely ineffective, we presumed latent infection of the CNS with T. gondii. This case suggests the difficulty of distinguishing ECD with CNS involvement from toxoplasmic encephalitis and the possibility of a relationship between the pathogeneses of ECD and infection with T. gondii.

Erdheim-Chester disease presenting as meningitis with hypoglycorrhachia: A case report

“…ECD is a non-Langerhan histocyte neoplasm first described in 1930 by Jakob Erdheim and William Chester. [ 3 , 4 ] The World Health Organization classified ECD as a distinct entity in 2016, separate from disseminated juvenile xanthogranoloma, characterized by CD68-positive, CD1a-negative foamy histocytes infiltrating into tissue which can occur in multiple organs. [ 3 , 5 , 6 ] It is associated with mutations in the mitogen-activating protein kinase cell signaling pathway involving RAS-RAF-MEK-ERK, with patients in 1 case series of neurologic ECD found harboring mutations in BRAF (18/30 patients), MAP2K1 (5/30 patients), RAS isoforms (2/30 patients), or fusions of BRAF and ALK (2/30 patients).…”