Abstract
Objective: To report the case of a 35-year-old woman with treatment-resistant aquaporin-4 (AQP-4) immunoglobulin G (IgG) seronegative neuromyelitis optica spectrum disorder (NMOSD) successfully treated with eculizumab (a terminal complement inhibitor).Methods: The investigational procedures and treatment regimens the patient received were documented over 8 years [2012 (first presentation) to 2020].Results: The patient presented with subacute onset of lower-limb weakness and numbness, gait imbalance, and urinary incontinence. Magnetic resonance imaging (MRI) showed abnormalities in the thoracic spine from T7 to T10, but brain and cervical spine scans, visual evoked potential latencies, and IgG index were normal; cerebrospinal fluid pleocytosis and oligoclonal bands were both present. After treatment with intravenous methylprednisolone 1 g/day for 5 days, the patient was discharged without medication to acute rehabilitation but experienced relapses from 2012 to 2014. She was treated with oral prednisone (initiated at 40 mg/day in 2014; the dose was halved in 2015 due to weight gain) and mycophenolate mofetil (MMF) 1 g twice daily (from June 2015), but between 2014 and 2019 experienced 4–5 relapses/year, requiring treatment with intravenous methylprednisolone, with added maintenance plasma exchange from 2018 onwards. Although the patient tested negative for antibodies to AQP-4 and myelin oligodendrocyte glycoprotein, she was diagnosed with NMOSD in February 2017, based on recurrent episodes of longitudinal extensive transverse myelitis, MRI changes, and area postrema syndrome. By 2018 the patient needed a cane to walk. Prednisone and MMF were discontinued mid-2018, and rituximab was prescribed from July 2018 (maintenance regimen two 1 g doses 2 weeks apart every 6 months) but discontinued in July 2019 owing to lack of significant improvement. From July 2019 eculizumab was prescribed for 6 months (900 mg weekly for the first four doses, then 1200 mg every 2 weeks). The patient had no relapses or adverse events during and after eculizumab treatment (as of August 2020) and was able to walk unaided; her Expanded Disability Status Scale score improved from 4–5 during 2015–2018 to 2 in 2020 following eculizumab treatment.Conclusion: Eculizumab shows promise as a treatment for AQP-4 IgG-seronegative NMOSD and further studies are warranted.
Highlights
CASE REPORTNeuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD) is a rare disease characterized by autoimmune demyelination and axonal damage predominantly affecting the spinal cord [longitudinal extensive transverse myelitis (LETM)] and optic nerve [1]
These findings suggest that eculizumab may be a useful addition to treatment options in the subgroup of patients with AQP-4-antibody seronegative Neuromyelitis optica spectrum disorder (NMOSD)
The mechanism of action of eculizumab in seronegative Neuromyelitis optica spectrum disorder (NMOSD) remains to be elucidated
Summary
Neuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD) is a rare disease characterized by autoimmune demyelination and axonal damage predominantly affecting the spinal cord [longitudinal extensive transverse myelitis (LETM)] and optic nerve (optic neuritis) [1]. It is preponderant in women, and the median age of onset is 39 years [2]. The anti-AQP-4 antibody selectively binds the AQP-4 water-channel protein in astrocytes and is detected in up to 73% of patients with NMOSD [5]. Of the remaining patients with NMOSD, 11% are positive for antibodies to myelin oligodendrocyte glycoprotein (MOG)—a component of myelin expressed on the surface of myelin sheaths in the central nervous system (CNS) [7]—and 16% have no detectable antibodies to either AQP-4 or MOG [4, 5]
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