NMO Spectrum Disorder, an Often Missed, but Life Changing Diagnosis

Introduction: Neuromyelitis Optica (NMO) Spectrum Disorder is a rare, but severe inflammatory, demyelinating and necrotizing autoimmune-mediated disease of the CNS affecting the spinal cord and optic nerves. Case Description: 72-year-old female presenting to the ED complaining of 4-day history of worsening left arm weakness and numbness associated with right occipital headaches and progressively decreased vision on her right eye. Physical examination significant for decreased visual acuity of right eye, 3/5 strength and decreased sensation to light touch of LUE. Brain MRI w-wo contrast: no acute infarction or hemorrhage; AV malformation in right cerebellum measuring 3.2x3.3 cm with mild surrounding edema. Cervical Spine MRI w-wo contrast: long segment T2 cross-sectional intramedullary edematous signal extending from C2-T3, with enhancement from C4-C6 with the appearance of demyelinating process. Face MRI w-wo contrast: Focal T2 hyperintense signal of the proximal intracranial segment of right optic nerve, without swelling/enhancement. NMO IgG Autoantibodies (Aquaporin-4 IgG): 4.3 (high) (Reference 0.0-3.0). Patient was treated with Solumedrol 1gm IV daily x5 days with improvement of her symptoms. She also received one dose of Rituximab and is scheduled to receive 3 more doses as outpatient. Discussion: Case describes the presentation of acute flare of NMO Spectrum Disorder. Patient’s clinical presentation combined with relevant findings on imaging as well as confirmatory immunological testing led us to a diagnosis of NMO Spectrum Disease.