Erdheim-Chester disease: computed tomography in two cases.

Abstract

A 70-year-old man presented with painless , progressive protrusion of both eyes of 3 months' duration. He had been hospitalized on several occasions for dyspnea, congestive heart failure, and weight loss. Bronchial and pleural biopsy demonstrated fat-laden macrophages, but a definite diagnosis was not established. CT of the orbits demonstrated bilateral enhancing retrobulbar masses (fig. 1A). The mass in the right orbit diffusely infiltrated the retroorbital fat and obscured the normal architecture of the orbit. The optic nerve could not be discretely identified. On the left side a more focal mass was located mainly lateral to the optic nerve and did not reach the orbital apex. Bilateral exophthalmos was present. The extraocular muscles appeared normal in size. The rest of the CT scan of the head was normal. A right orbitotomy was performed and a biopsy obtained. The pathologic interpretation of the tissue by the Armed Forces Institute of Pathology (AFIP) was that of an unusual type of xanthogranulomatous inflammatory pseudotumor. A trial course of prednisone had no effect on the retrobulbar masses. Two years later, the patient was hospitalized with congestive heart failure. Bone radiographs demonstrated symmetric areas of sclerosis in the metaphyses of the long tubular bones (fig . 1 B). He was treated for cardiac decompensation and recovered . His eyes remained stable. Fourteen months later, at age 74, he developed right-sided heart failure secondary to pulmonary fibrosis and died. A review of tissue obtained from the head of the right femur revealed focal infiltration by large, clear, xanthomatous histiocytes and discrete collections of cholesterol clefts surrounded by multinucleated foreign-body giant cells. The combination of radiographic and histologic findings was believed to represent Erdheim-Chester disease.