Erdheim-Chester disease with chorioretinal and orbital involvement: a case report

Doença de Erdheim-Chester com envolvimento coriorretiniano e orbitário: relato de caso

ABSTRACT

A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

Keywords
Hemic and lymphatic diseases; Histiocytosis; Histiocytosis, non-Langerhans cell; Erdheim-Chester disease; Retinal diseases; Orbital diseases; Humans; Case reports