[A man in his forties with swelling in both orbits]

Erdheim-Chester disease. A multi-disiplinary challenge. The histiocytoses are a diverse, but rare group of disorders with symptoms affecting many organs, varying from self-limiting, localised lesions to disseminated multi-organ disease. The diagnostic challenges are illustrated and discussed in the following case.

A man in his forties was admitted to hospital due to pain in his right eye and visual disturbances. MRI imaging detected a mass in his right orbit and a minor mass in his left orbit. The histological results of the mass in his right orbit revealed an inflammatory process with lymphocytes and macrophages and no sign of vasculitis, infection or malignancy. The diagnosis pseudotumor orbita was made and treatment with corticosteroids was initiated. He did not respond to corticosteroids or radiotherapy and increasing symptoms necessitated rehospitalisation. Further tests disclosed a multisystem disease which affected the aorta, skeleton, lung, heart and kidney. The biopsy was reconsidered and the disease was classified as a histiocytosis with CD68 positive and CD1a negative cells. The diagnosis Erdheim-Chester was given, about 14 months after the initial hospitalisation. Treatment with interferon α was started.