Clinical and diagnostic imaging manifestations of Erdheim-Chester disease

Abstract

Introduction: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis which typically presents with bilateral masses due to retro-orbital deposition, xanthelasma of the eyelids, cardiopulmonary manifestations, along with sclerosis and cortical thickening of the long bones, particularly in the lower extremities. Case Report: We present the case of a 58-year-old male who presented to a local emergency department with a one day history of severe dizziness, diaphoresis, dyspnea, and intermittent diplopia. Imaging demonstrated bilateral symmetric retrobulbar masses. Subsequent imaging as well as orbital and bone marrow biopsies lead to the diagnosis of ECD. Conclusion: Erdheim-Chester disease is a rare form of non-Langerhans-cell histiocytosis. This case demonstrates classic clinical and imaging findings representative of ECD. Diagnostic imaging and pathologic findings play a vital role in the diagnosis and choice of therapy in patients with ECD. Although interferon is currently considered to be first-line therapy, targeted BRAF and MEK inhibitors hold promise for future direction.