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Show Poster 57 A Diagnostically Challenging Case of Neurosarcoidosis in the Era of Highly Sensitive Tests Konstantinos Douglas1, Vivian Paraskevi Douglas1, Eric Gaier1, Dean Cestari1 Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA 1 Introduction: Neurosarcoidosis can present a diagnostic challenge in indolent, relapsing cases when ancillary testing is normal. Manifestations confined to the CNS are rare and definitive diagnostic efforts made by brain biopsies would put the patient at great risk. Description of Case(s): A 55 yo Caucasian woman presented with 1 week of decreased vision and ache on abduction OD. She had decreased hearing and tinnitus OD, a moderate right-sided frontal headache and unsteady gait without diplopia, facial numbness or paresthesias. She has a history of stage IV BRCA treated with chemotherapy after mastectomy 5 years prior. BCVA was 20/50 OD, 20/25 OS with dyschromatopsia and rAPD OD. EOMs were full. DFE demonstrated a pale right optic nerve. Brain MRI, initially reported as normal, demonstrated thickening and enhancement of both optic nerves, CN III OD, CN V bilaterally, pituitary infundibulum, hypothalamus and adjacent cavernous sinuses, upon our review. Leptomeningeal thickening on the anterior frontal lobes was also evident. CSF contained CD4+, CD8+ T-cells and a small population of polyclonal CD19+ B cells. An extensive inflammatory, infectious and autoimmune work-up was normal. CT thorax and full-body PET revealed no abnormalities. Clinically, she initially responded to corticosteroids. Over the ensuing 5 years, she had multiple similar presentations with facial pain and paresthesias. She developed a chronic small-fiber periphery neuropathy and was treated with mycophenolate mofetil, cyclophosphamide and IVIG. She remained clinically stable for 4 years and returned with similar symptoms. A repeat MRI, PET CT and tissue biopsies were diagnostic. Conclusions, including unique features of the case(s): The clinician should maintain a high index of suspicion for neurosarcoidosis despite a negative work-up. It is imperative to review neuroimaging yourself and not rely on the neuro-radiology report. Repeating initially negative studies when new symptoms manifest is necessary. References: None. Keywords: Neuro-ophth & systyemic disease (eg. MS, MG, thyroid) Financial Disclosures: The authors had no disclosures. Grant Support: None. 112 | North American Neuro-Ophthalmology Society |
