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Rare Case of Bilateral Orbital Masses

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 60-year-old woman with a history of Lyme disease presented with polydipsia and polyuria and received a diagnosis of diabetes insipidus. Brain magnetic resonance imaging (MRI) results revealed a thickening and enhancement of the pituitary gland, stalk, and hypothalamus. The abnormal imaging findings improved on subsequent MRIs without treatment. Surveillance pituitary MRIs remained stable. Four years later, MRI results (Figure) revealed bilateral T1 and T2 low-intensity intraconal soft tissue masses with avid enhancement on postcontrast images. The optic nerves were encased with no evidence of infiltration of the nerves, vascular structures, or extraocular muscles. She reported the sensation of eye fullness and denied pain. Her best-corrected visual acuity was 20/20 OU. Her pupils were symmetric and responded to light and near effort; there was no relative afferent pupillary defect. The results of testing with an Amsler grid and Ishihara color plates were normal. Her visual fields were full to confrontation. The optic nerves and retina were normal bilaterally. There was bilateral periorbital swelling and proptosis. Exophthalmometry measurements on a base of 92 were 17 mm on the right and 19 mm on the left. Applanation tonometry results were 12 mm Hg on the right and 15 mm Hg on the left. Extraocular motility examination results revealed substantial (−3) deficits in both eyes. The remainder of the neurologic examination results were normal.

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Erdheim-Chester disease

D. Obtain biopsy results

Thyroid-associated orbitopathy typically presents with bilateral extraocular muscle enlargement and is unlikely to cause bilateral retrobulbar masses, sparing the extraocular muscles. Therefore, thyroid function was not tested as the next step. An orbital venous varix can present as an enhancing orbital mass that distends with increased venous pressure. It typically presents with an intermittent, reversible proptosis. These conditions have no known association with pituitary dysfunction and infundibular stalk thickening. Therefore, the orbital and pituitary findings are not consistent with venous varix and Doppler ultrasonography would not be helpful. Histiocytosis, lymphoma, and sarcoidosis would all be in the differential for stalk lesions and bilateral orbital enhancing masses. Chest computed tomography (CT) would not be able to distinguish between these entities and therefore an orbital biopsy was judged as the next procedure to perform.

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Article Information

Corresponding Author: Ajay Malhotra, MD, MMM, Department of Radiology and Biomedical Imaging, Yale University School of Medicine, 333 Cedar St, PO Box 208042, Tompkins East 2, New Haven, CT 06520-8042 (ajay.malhotra@yale.edu).

Published Online: June 6, 2019. doi:10.1001/jamaophthalmol.2019.1053

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank Ying-Chun Lo, MD, Yale New Haven Hospital, for providing pathology consultation on this case. He was not compensated for his contributions. We thank the patient for granting permission to publish this information.

References
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Arnaud  L, Hervier  B, Néel  A,  et al.  CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients.  Blood. 2011;117(10):2778-2782. doi:10.1182/blood-2010-06-294108PubMedGoogle ScholarCrossref
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Haroche  J, Cohen-Aubart  F, Emile  JF,  et al.  Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation.  Blood. 2013;121(9):1495-1500. doi:10.1182/blood-2012-07-446286PubMedGoogle ScholarCrossref
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