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A 17-year-old African American boy was seen at our ophthalmology clinic with 3 weeks of a drooping left eyelid. He reported ptosis and marked proptosis of his left eye for 3 weeks before presentation. He denied any signs of diplopia, change in vision, or systemic symptoms, including difficulty breathing, swallowing, or articulating speech. Additional ocular history included refractive error and vision therapy to strengthen his left eye in childhood. His medical history was significant for obesity and a recent 45-kg intentional weight loss. Visual acuity on presentation was 20/20 OD and 20/30 OS with full-color vision plate testing in both eyes and no relative afferent pupillary defect. By Hertel exophthalmometry, he had 2 mm of left-sided proptosis and hypoglobus, with right-sided eyelid retraction (Figure, A). Margin-to-reflex distance 1 in the left eye was 1.0 mm, worsening to −2 mm on prolonged eyelid opening, with subjective fatigue. On extraocular muscle (EOM) testing, the patient exhibited −2 restriction in upgaze of the left eye, with double vision in supraduction. Slitlamp examination showed no significant anterior segment findings, and examination of the patient’s left optic nerve demonstrated no optociliary shunt vessels, edema, pallor, or hemorrhage. A computed tomography (CT) scan of the orbits was obtained (Figure, B), which showed enlargement of the left orbital fat compartments but no evidence of left orbital mass or EOM enlargement.
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Pediatric thyroid eye disease, with myasthenia gravis
B. Serologic workup
With unremarkable orbital imaging except for fat compartment enlargement in this patient, consideration of systemic etiologies for proptosis, ptosis, and EOM restriction were considered, and a thyroid panel was sent to the laboratory. Total thyroxine was high at 27.1 μg/dL (to convert to nanomoles per liter, multiply by 12.871), thyrotropin was low at 0.05 mIU/L, total triiodothyronine was elevated at 703 ng/dL (to convert to nanomoles per liter, multiply by 0.0154), and antibodies in a panel that included thyrotropin receptor, anti-TPO, and thyrotropin were all positive. With variability in his ptosis and documented fatigability, the patient began a trial of pyridostigmine bromide for presumed myasthenia gravis (MG), with interval resolution of his ptosis. A CT scan of the chest showed no evidence of thymoma, and acetylcholine receptor antibody testing (binding, blocking, and modulating) was negative. He was given a final diagnosis of Graves disease with type 1 lipogenic thyroid orbitopathy, as evidenced by fat compartment enlargement on CT, and concomitant seronegative myasthenia gravis.
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Corresponding Author: Lindsay Machen, MD, Illinois Eye and Ear Infirmary, The University of Illinois at Chicago, 1855 W Taylor St, Chicago, IL 60612 (email@example.com).
Published Online: July 19, 2018. doi:10.1001/jamaophthalmol.2018.0169
Conflict of Interest Disclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest, and none were reported.
Additional Contributions: We thank the patient for granting permission to publish this information.
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