Vasculitis with superior ophthalmic vein thrombosis compatible with neuro-neutrophilic disease

PURPOSE: To present a unique case of neuro-neutrophilic disease with inflammation and thrombosis of the superior ophthalmic vein (SOV). OBSERVATIONS: A 43-year-old Japanese man with past histories of oculomotor paralysis, auditory disorder, ischemic enteritis, and recurrent oral ulceration was referred to our hospital because of blurred vision in his right eye. Ophthalmic examination revealed decreased best corrected visual acuity and central scotoma in his right eye. Orbit magnetic resonance imaging (MRI) revealed an enlarged SOV in the right eye, with Gadolinium (Gd) enhancement in the wall of the vein but not inside the vein, indicating thrombosis. Multiple Gd-enhanced hyperintense lesions were also observed in the juxtacortical area of the brain. We diagnosed the patient with vasculitis in the right SOV that was adversely affecting the optic nerve. We ruled out systemic thrombophilia, infections, and malignancy by systemic examinations. The human leukocyte antigen (HLA) typing was Cw1-, B54-, B61-, A2-, A24-, and DR4-positive and B51-negative. We treated the patient with systemic steroid and anticoagulant therapy. After three courses of steroid pulse therapy, his symptoms and the MRI findings of the right SOV and brain improved; therefore, we decided to discontinue the anticoagulant therapy. One month after anticoagulant cessation, MRI revealed recurrence of the thrombus and enlargement of the right SOV despite the lack of vision worsening. We restarted the anticoagulant therapy while continuing the oral prednisolone treatment. At the final visit, 14 months after the onset of the disease, the patient was still receiving oral anticoagulation with warfarin potassium and prednisolone (5 mg/day). His symptoms and the right eye's visual function remained normal with a mildly enlarged SOV; there was less Gd enhancement and no brain lesions on MRI. CONCLUSIONS AND IMPORTANCE: We treated a unique case of possible neuro-neutrophilic disease that presented visual disturbances due to right SOV inflammation and thrombosis. Anticoagulation and systemic steroid therapies were required to reduce the inflammation and to prevent the recurrence of thrombosis.