A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

ObjectiveTo describe the clinical features of late-onset (≥50 years) neuromyelitis optica spectrum disorder (LO-NMOSD), to compare the outcome with that of early-onset (EO-NMOSD), and to identify predictors of disability.MethodsA retrospective, multicenter study of 238 patients with NMOSD identified by the 2015 criteria. Clinical and immunologic features of patients with LO-NMOSD were compared with those with EO-NMOSD. All patients were evaluated for aquaporin-4 (AQP4-IgG) and myelin oligodendrocyte glycoprotein (MOG-IgG) antibodies.ResultsSixty-nine (29%) patients had LO-NMOSD. Demographic features, initial disease presentation, annualized relapse rate, and frequency of AQP4-IgG and MOG-IgG did not differ between patients with LO-NMOSD and EO-NMOSD. Among patients with AQP4-IgG or double seronegativity, those with LO-NMOSD had a higher risk to require a cane to walk (hazard ratio [HR], 2.10, 95% CI 1.3–3.54, p = 0.003 for AQP4-IgG, and HR, 13.0, 95% CI 2.8–59.7, p = 0.001, for double seronegative). No differences in outcome were observed between patients with MOG-IgG and LO-NMOSD or EO-NMOSD. Older age at onset (for every 10-year increase, HR 1.63, 95% CI 1.35–1.92 p < 0.001) in NMOSD, and higher disability after the first attack (HR 1.68, 95% CI 1.32–2.14, p < 0.001), and double seronegativity (HR 3.74, 95% CI 1.03–13.6, p = 0.045) in LO-NMOSD were the main independent predictors of worse outcome.ConclusionsPatients with LO-NMOSD have similar clinical presentation but worse outcome than EO-NMOSD when they are double seronegative or AQP4-IgG positive. Serostatus and residual disability after first attack are the main predictors of LO-NMOSD outcome.

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A Girl With Back Pain, Paresthesias, and Painful Vision Loss

10.1093/med/9780197583425.003.0014 ◽

2021 ◽

pp. 44-47

Author(s):

Cecilia Zivelonghi ◽

Andrew McKeon

Keyword(s):

Back Pain ◽

Neuromyelitis Optica ◽

Immunoglobulin G ◽

Vision Loss ◽

Spectrum Disorder ◽

Aquaporin 4 ◽

Lower Limbs ◽

First Episode ◽

Neuromyelitis Optica Spectrum Disorder ◽

Anti Cd20

A 12-year-old girl sought care for subacute onset of cramping back pain, along with paresthesias in her lower limbs up to the waistline, both hands, upper back, and chest, followed by rapidly progressive (over a few hours) painful vision loss affecting initially the right eye with subsequent involvement of the left eye. She underwent neuroophthalmologic evaluation and was diagnosed with bilateral optic neuritis. A positive Lhermitte sign was also present. The patient was tested for aquaporin-4-immunoglobulin G autoantibodies, which were positive in both serum and cerebrospinal fluid. A diagnosis of aquaporin-4-immunoglobulin G–positive neuromyelitis optica was made. The patient was treated with rituximab (anti-CD20 monoclonal antibody) and became episode-free, with no further accumulation of disability. The discovery of aquaporin-4-immunoglobulin G in 2004 has permitted the distinction of neuromyelitis optica spectrum disorder from other inflammatory central nervous system disorders. Aquaporin-4-immunoglobulin G represents a highly specific biomarker for neuromyelitis optica (almost 100% using molecular-based techniques), with sensitivity of approximately 80%. According to the most recent diagnostic criteria published in 2015, a diagnosis of neuromyelitis optica spectrum disorder can also be made for patients who are aquaporin-4-immunoglobulin G seronegative by any testing method, regardless of assay sensitivity, provided that more stringent clinical and radiologic requirements are met. Serial testing is recommended for these patients because late seroconversion has been described up to 4 years after the first episode.

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Two Cases of Very-Late-Onset Neuromyelitis Optica Spectrum Disorder (NMOSD) in Patients over the Age of 80

Case Reports in Neurology ◽

10.1159/000505231 ◽

2020 ◽

Vol 12 (1) ◽

pp. 13-17 ◽

Cited By ~ 1

Author(s):

Shunya Fujiwara ◽

Yasuhiro Manabe ◽

Ryuta Morihara ◽

Taijun Yunoki ◽

Syoichiro Kono ◽

...

Keyword(s):

Neuromyelitis Optica ◽

Clinical Course ◽

Late Onset ◽

Transverse Myelitis ◽

Spectrum Disorder ◽

High Dose ◽

Neuromyelitis Optica Spectrum Disorder ◽

Initial Manifestation ◽

High Dose Methylprednisolone ◽

Aqp4 Antibody

We report two cases of very-late-onset neuromyelitis optica spectrum disorder (NMOSD) in patients over the age of 80 with transverse myelopathy as the initial manifestation. In both cases, the patients presented with paraplegia and sensory, bladder, and rectal disturbances. Thoracic magnetic resonance imaging showed longitudinal high-intensity signals on a T2-weighted image. The patients received high-dose methylprednisolone. Their serum was positive for anti-AQP4 antibody (cell-based assay) during the clinical course. They were diagnosed with NMOSD and treated with immunoadsorption, plasmapheresis, and followed up with daily prednisolone. Very-late-onset NMOSD in patients over the age of 80 has only rarely been reported. The present cases suggest that NMOSD should be considered for elderly patients presenting with transverse myelitis. Early diagnosis and treatment are important.

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