Copyright © 2019 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc. Unauthorized reproduction of this article is prohibited. © 2019 Te American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc. e149 Ophthalmic Plast Reconstr Surg, Vol. 35, No. 6, 2019 Case Reports Renal Medullary Carcinoma With Metastasis to the Temporal Fossa and Orbit Ritah Chumdermpadetsuk,*, Andrea A. Tooley, M.D.†, Kyle J. Godfrey, M.D.†, Brian Krawitz, M.D.†, Neil Feldstein, M.D.‡, and Michael Kazim, M.D.† DOI: 10.1097/IOP.0000000000001478 *Columbia University College of Physicians and Surgeons; †Department of Ophthalmology, Columbia University Medical Center; and ‡Department of Neurosurgery, Columbia University Medical Center, New York, New York, U.S.A. Accepted for publication August 7, 2019. Supported by the Research to Prevent Blindness. No Financial Disclosures Address correspondence and reprint requests to Andrea A. Tooley, M.D., Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, New York, NY 10032. E-mail: at3285@cumc.columbia.edu Abstract: A 22-year-old Hispanic man with sickle cell trait presented with blurred vision, double vision, and pain with OD movement. MRI demonstrated an extra-axial mass centered around the temporal bone with extension into the middle cranial fossa and lateral aspect of the extra-conal right orbit, and mass effect on the lateral rectus muscle. Biopsy of the lesion was consistent with renal medullary carcinoma. CT chest/abdomen/pelvis confirmed a primary tumor in the right kidney. No additional metastases were found. Renal medullary carcinoma is a rare, highly aggressive malignancy, which almost exclusively affects young men of African descent with sickle cell trait or sickle cell disease. The authors present the second confirmed case of renal medullary carcinoma metastatic to the orbit, with ocular symptoms prior the typical presenting symptoms of flank pain and hematuria. R enal medullary carcinoma (RMC) is a rare, highly aggres- sive malignancy initially described in 1995 in a case series of 34 patients. 1 Fewer than 400 total cases have been reported. 2 Renal medullary carcinoma typically occurs in the second and third decades of life with male predilection, and almost ex- clusively in persons of African descent with sickle cell trait or sickle cell disease. 2 Most commonly, patients initially present with gross hematuria and/or flank pain, 3 and regional lymphatic and/or distant metastasis at the time of diagnosis, contributing to a poor prognosis. 4 The most common sites of distant me- tastasis include the liver, lungs, bones, inferior vena cava, and omentum. 4 To the authors’ knowledge, only 1 case of RMC me- tastasis involving the orbit, and 1 case of metastasis to the retina and choroid have been reported in the literature. 4,5 In the case of orbital metastasis, orbital symptoms preceded the diagnosis of the primary tumor. 5 The authors present a case of RMC with metastasis to the temporal fossa and orbit in a young Hispanic man with sickle cell trait. This study is in compliance with the Health Insurance Portability and Accountability Act and adheres to the ethical principles outlined in the Declaration of Helsinki; consent to publish identifiable photographs has been obtained and is archived with the authors. CASE PRESENTATION A 22-year-old Hispanic man presented with a 6-month history of right-sided headache and 4 days of blurred vision, double vision, and pain with OD movement. Ophthalmic examination demonstrated a visual acuity of 20/20 OU, Hardy- Rand-Rittler color plate identification of 2.5/6 OD and 3/6 OS (the patient’s ophthalmic history includes red-green color blind- ness), and full confrontational visual fields OU. Amsler grid testing demonstrated metamorphopsia in the OD. Extra-ocular motility was full OU, but painful in the OD. Intraocular pressure was 21 mm Hg OD and 16 mm Hg OS. Right-sided proptosis (Hertel 22, 18; base 100 mm) and mild upper eyelid ecchymosis were noted along with a soft, palpable mass at the right tem- poral region (Fig. 1). Dilated eye exam was within normal limits without evidence of optic nerve or retinal abnormality. The re- mainder of his ophthalmic exam was unremarkable. MRI brain demonstrated an avidly enhancing extra-axial mass (5.9 cm craniocaudal × 4.9 cm transverse × 4.6 cm anterior/ posterior) centered around the temporal bone with extension into the middle cranial fossa with mass effect on the anterior temporal lobe, as well as the lateral aspect of the extra-conal right orbit with slight mass effect on the lateral rectus (Fig. 2). CT of this lesion demonstrated extensive lytic changes in the surrounding bone (Fig. 2). Differential diagnosis at this time included meningioma, metastatic disease, or primary osseous neoplasm. CT chest/abdomen/pelvis revealed a heterogenous mass (1.6 × 2.4 × 1.6 cm 3 ) in the right kidney with possible ex- tension into the renal sinus, as well as an indeterminate 9-mm hypodense hepatic lesion later characterized on MRI as con- sistent with a hemangioma. Hemoglobinopathy screening revealed 38.2% Hgb S, consistent with previously undiagnosed sickle cell trait. A biopsy of the lesion in the temporalis muscle revealed a high-grade infiltrative neoplasm, arranged in nests and cords, with areas of geographic necrosis. The tumor cells were highly pleomorphic, with abundant eosinophilic cytoplasm as well as occasional intracytoplasmic vacuoles. The nuclei were hyper- chromatic, with prominent and sometimes eccentric nucleoli. Frequent mitotic figures were identified. Immunohistochemistry showed positive reactivity to PAX-8, CK, CK7, CAM5.2, and loss of SMARCB1/INI-1, which were consistent with a diag- nosis of RMC (Fig. 3). FIG. 1. External photograph of the eye demonstrating right- sided proptosis and mild upper eyelid ecchymosis and edema. A, Submental view. B, Frontal view.