Case Presentation: : A 50-year-old African-American woman with history of hypothyroidism presented to the hospital with one week of sharp right orbital headaches, numbness, and itching. Associated symptoms included numbness from the eye to the mouth, pruritus, and dysphagia. Physical exam was remarkable for diminished pin prick and temperature sensation in the V1-V3 distribution on the right, diminished pin prick and temperature sensation in the T6-T10 dermatomes, and bilateral cervical lymphadenopathy. Laboratory workup revealed elevated transaminases, LDH 304, WBC 3.2, eosinophils of 7.2%. Antinuclear, antimitochondrial, IgE, double-stranded DNA, myeloperoxidase, and proteinase-3 antibodies were all negative. CT chest revealed hilar and right mediastinal adenopathy, lung nodules, and bilateral breast masses. MRI brain was notable for mass-like soft tissue enhancement in Meckel’s cave. Breast biopsy was negative for malignancy. Further workup showed elevated ACE enzyme. FNA lymph node biopsy showed clusters of epithelioid histiocytes mixed with lymphocytes suggestive of a granulomatous process. Patient was diagnosed with neurosarcoidosis and treated with prednisone and cellcept. Follow up in the outpatient setting revealed improved symptoms after starting therapy.
Discussion: Sarcoidosis is a multisystem inflammatory disease histologically defined by the presence of noncaseating granulomas in various organ systems that can present with a wide constellation of symptoms. Etiology and pathogenesis of this disease are still largely unknown though it is suspected that genetic predisposition and environmental exposures likely play an important role (6). Though rare, neurosarcoidosis (NS) is an important manifestation of the disease that occurs in 3-10% of patients with sarcoidosis (2). Neurologic features are rarely present within 2 years of diagnosis (6). Though any part of the nervous system can be affected, the most common presentations of NS include cranial neuropathies (50-75%), psychiatric manifestations (20%), peripheral nerve/muscle disease (15%), meningitis (3-26%[7]), and CNS mass lesions (5-10%[3]). Given the rarity of this disease, few randomized controlled trials for treatment/management of NS are available. Standard of care almost invariably involves use of systemic glucocorticoids (3). Patients often respond well to this treatment but suffer from relapse with steroid dose reduction (3). Given the adverse effects with chronic use, clinicians are continuing to explore other steroid-sparing treatments for patients.
Conclusions: Sarcoidosis is a well-known disease that affects primarily women with a higher incidence in African Americans. Common presentations include cough, dyspnea, uveitis, and constitutional symptoms. Neurological symptoms are present in 3-10% of patients with sarcoidosis; however, they are uncommonly the primary manifestation of the disease, making this case one of few cases in the literature that presents Neurosarcoidosis as the primary manifestation of this systemic disease.