Bilateral orbital involvment in Erdheim-Chester disease: case report

ABSTRACT

Purpose: To report a case of Erdheim-Chester disease with bilateral orbital involvement and to inform ophthalmologists about this uncommon condition. Methods: Case report. A 41-year-old man presented with proptosis, lid xanthelasmas, disc edema and extraocular muscle restrictions. He was suspected of having a systemic lymphoma and had already been submitted to a retroperitoneal biopsy, however, the diagnoses was still uncertain. Results: The patient was evaluated by computed tomography and magnetic resonance imaging of the orbit. Orbital pseudotumor was suspected and abiopsy of the orbital lesion initially failed to provide the correctdiagnosis which was only made after detaíled analysis of the clinical and imaging findings, andreview of thehistopathologic studies. The systemic diagnosis was mude after the orbital diagnosis although the patient had been extensively investigated for more than one year. Conelusions Erdheim-Chester disease is a rare idiopathic systemic condition characterized by a xanthogranulomatous process involving retroperitoneum, heart, lungs, bone and other tissues. The condition is often fatal due to renal or cardiovascular complications. Ocular findings are rare but may be very helpfui for the diagnoses. Therefore, ophthalmologists should be aware of the clinical manifestations and imaging findings of this rare disease in order to establish an early diagnoses.