Seronegative neuromyelitis optica spectrum disorder: severe polysymptomatic presentation with successful treatment response

• Published in: BMJ case reports Vol. 12; no. 3; p. e228553
• Main Authors: Pires da Rosa, Gilberto, Costa, Francisca, Guimarães, Joana, Friões, Fernando
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.03.2019; BMJ Publishing Group
• Series: Case Report
• Subjects: Antibiotics; Aquaporins; Ataxia; Autoantibodies - blood; Case reports; Encephalomyelitis; Humans; Immunoglobulin G - therapeutic use; Immunoglobulins; Immunologic Factors - therapeutic use; Immunotherapy; Inflammatory diseases; Magnetic Resonance Imaging; Male; Medulla Oblongata - diagnostic imaging; Middle Aged; Monoclonal antibodies; Multiple sclerosis; Neuroimaging; Neurology; Neuromyelitis Optica - diagnosis; Neuromyelitis Optica - therapy; Neurosurgery; Optic Nerve - diagnostic imaging; Optics; Pain; Patients; Plasma Exchange; Pons - diagnostic imaging; Rare Disease; Rituximab - therapeutic use; Spinal cord; Systematic review; Tomography, X-Ray Computed; Treatment Outcome; brain stem / cerebellum; spinal cord; immunology; neurology; neuroimaging
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2018-228553

We report the case of a 50-year-old caucasian man presenting with lumbar pain, bilateral ataxia, central facial palsy, ophthalmoparesis and urinary retention. Cerebral MRI hinted a hyperintensity of the medulla oblongata and cervical medulla suggestive of myelitis. Cerebrospinal fluid displayed lymphocytic pleocytosis and elevated protein concentration. Without the possibility to rule out an infectious or inflammatory aetiology, antibiotics and corticosteroids were started. Nevertheless, neurological status deteriorated with loss of muscle strength and left eye amaurosis. A neuroaxis MRI exhibited encephalomyelitis with signal abnormalities involving the pons, medulla oblongata, left optic nerve and cervicodorsal medulla. Although negative for aquaporin-4-IgG antibodies, the patient fulfilled criteria for seronegative neuromyelitis optica spectrum disorder with the presence of multiple core clinical characteristics. Through early institution of corticosteroids, plasma exchange and rituximab, good functional recovery was achieved (Expanded Disability Status Scale score of 2). However, left eye amaurosis persisted despite salvage therapy with intravenous immunoglobulin.