A 22-year-old Hispanic woman was in her usual state of health until she developed severe headache (8 of 10 scale) and blurred vision for last 5 days. She was seen at the ophthalmology clinic with marked reduction in vision of her right eye more than left that slowly progressed over 5 days. The patient reported this progressive loss of vision was interfering with her daily activities. She denied flashes of light and floaters in either eye. Her visual acuity examination showed right eye 20/70 and left eye 20/200. Her intraocular pressures and examination of conjunctivae, corneas, anterior chamber, and irises were within normal limits. The examination of posterior chamber after dilation revealed congestion of optic nerves and prepapilledema. There was subretinal fluid beneath the maculae and surrounding the optic nerves. Due to initial diagnosis of serous chorioretinopathy and its underlying differential diagnosis of autoimmune, infectious, carcinomatous, or paraneoplastic conditions and with coexistence of headache, she was sent to the hospital for evaluation. Upon admission, magnetic resonance imaging (MRI) of brain with contrast revealed generalized leptomeningeal enhancement with "sugar-coating" or "zuckerguss pattern" in her vermis region of cerebellum (Figures 1 and 2). Her orbital MRI showed increased signal thickening at the posterior aspect of globes and focal enhancements (Figure 3). Lumbar puncture showed an opening pressure of 150 mm H2O, glucose 58 (normal range: 40-75) mg/dL, protein 46 (normal range: 15-45) mg/dL, WBC (white blood cell) 180 cells/muL, RBC (red blood cell) count 25, lymphocytes 96%, neutrophils 3%, and macrophages 1%.
She was started on empirical antifungal and antituberculosis medications due to the chronic aseptic meningitis picture. In the next following 15 days, she did not improve clinically and instead developed new symptoms. Her new symptoms included tinnitus in left ear, vertigo, hyperacusis, photophobia, retroorbital pain, and loss of color perception. She underwent 3 additional lumbar punctures to rule out increased intracranial pressure with similar cerebrospinal fluid (CSF) findings (Table 1). Comprehensive workup (Table 2) was unrevealing; therefore, her antifungal treatment was stopped.
Upon further detail intake of her medical history, it was found that she had an episode of epistaxis accompanied with nasal cartilage inflammation and nasal septal deviation in the past. She has complained of rib cage pain on multiple occasions and also endorsed joint stiffness and pain involving her hands and back in the past. Her chest x-ray (CXR) and hand x-rays were unremarkable. The thoracic spine x-ray revealed moderate degenerative arthritis. Her mother disclosed to have a known diagnosis of seronegative rheumatoid arthritis and it was always a fear that she had passed it to her daughter. She also mentioned that she sought medical evaluation for her daughter at the age of 12 but never followed up thereafter. On further examination, she was found to have thinning of bilateral pinna without erythema. She met the criteria and diagnosis of RP with chorioretinitis and CNS involvement. She was initiated on pulse therapy with high dose of methylprednisolone 1000 mg for 3 days. During her pulse therapy and following days after, her visual acuity improved, color vision returned, and vertigo and hyperacusis resolved.
Her multidisciplinary team decided to complete 12 months of empirical tuberculosis treatment and she was discharged on prednisone 60 mg daily with plan to slowly taper and move to steroid-sparing immunosuppression. Follow-up lumbar punctures showed significant improvement (Table 1). Her follow-up brain MRI also showed resolution of leptomeningeal enhancement and sugar-coating enhancements in her vermis. Since then, over the last 3 years she has been followed up in ophthalmology and rheumatology clinics. She also underwent several minor relapses of her chorioretinitis without CNS involvement. She is currently responding to sulfasalazine, methotrexate, and ophthalmic steroid drops.