It is, is it not? - Abstract

A 44-year-old man presented with visual loss, confusion, apraxia, and left-sided weakness. His medical history included retinal vasculopathy, chronic kidney disease, hypertension, and hypertensive cardiomyopathy that had presented over the preceding six years. The retinal vasculopathy had been termed "posterior uveitis with retinal vasculitis." The condition had been treated with several immunosuppressive medications, including prednisone, cyclosporine, mycophenolate mofetil, adalimumab, methotrexate, and interferon-alpha. Additional treatments included retinal laser photocoagulation, intravitreal glucocorticoids, and bevacizumab. The patient had undergone two kidney biopsies, which were reported to show focal segmental glomerulosclerosis with thrombotic microangiopathy and mild nephrosclerosis. No tubulointerstitial disease was present. His father had died at age 36 years from Hodgkin lymphoma. His paternal uncle had died in his early forties from unclear causes, accompanied by renal dysfunction. The patient denied any history of oral, genital, or skin lesions, sicca symptoms, musculoskeletal, respiratory or gastrointestinal symptoms. He had undergone extensive diagnostic evaluations, including two brain biopsies, at another hospital. Glucocorticoids had been prescribed for cerebral edema. After five weeks, the patient was transferred to our institution for further management. On arrival, physical examination was remarkable for an irregularly irregular pulse and 3+ pitting edema of the lower extremities. Best-corrected visual acuity was 20/80 in the right eye and 20/50-1 in the left eye. There was bilateral dyschromatopsia. A relative afferent pupillary defect was not present. Slit lamp examination showed moderate bilateral symmetrical optic disc pallor, epiretinal membranes, cotton wool spots, retinal arteriole obstruction with sclerosis and resulting ghost vessels, and extensive pan-retinal photocoagulation scars. Neurological examination was remarkable for nonspecific visual field defects on confrontation testing, mild left lower facial weakness, mild left pronator drift, and unsteady gait. Cognitive abnormalities documented five weeks earlier were no longer present. Brain MRI revealed a right temporo-parieto-occipital tumefactive lesion with vasogenic edema extending through the splenium of the corpus callosum and the left periventricular white matter. Laboratory evaluations for systemic and CNS-related autoimmunity and inflammation, HLA-B51 antigen, and analysis of blood and cerebrospinal fluid for various infectious agents were negative. Specimens from the two brain biopsies demonstrated a vasculopathy with abnormally thickened vessel walls and focal necrosis of the white matter with areas of dystrophic calcification. Because the retinal vasculopathy, in combination with the tumefactive cerebral lesion, raised the possibility of Behçet disease or other inflammatory conditions, high-dose dexamethasone, weekly adalimumab, and daily cyclophosphamide were initiated. Decrease in the vasogenic edema with resolution of the mass effect was noted after 10 weeks of dexamethasone. His vision, however, continued to deteriorate. We took a direct approach toward reaching a diagnosis