scholarly journals Differential diagnosis of neuromyelitis optica spectrum disorders

2017 ◽  
Vol 10 (7) ◽  
pp. 265-289 ◽  
Author(s):  
Sung-Min Kim ◽  
Seong-Joon Kim ◽  
Haeng Jin Lee ◽  
Hiroshi Kuroda ◽  
Jacqueline Palace ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromyelitis Optica ◽  
Clinical Manifestations ◽  
Inflammatory Disorder ◽  
Test Results ◽  
Early Disease ◽  
The Central Nervous System ◽  
Assay Methods ◽  
Spectrum Disorders ◽  
Disease Stages

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disorder of the central nervous system (CNS) mostly manifesting as optic neuritis and/or myelitis, which are frequently recurrent/bilateral or longitudinally extensive, respectively. As the autoantibody to aquaporin-4 (AQP4-Ab) can mediate the pathogenesis of NMOSD, testing for the AQP4-Ab in serum of patients can play a crucial role in diagnosing NMOSD. Nevertheless, the differential diagnosis of NMOSD in clinical practice is often challenging despite the phenotypical and serological characteristics of the disease because: (1) diverse diseases with autoimmune, vascular, infectious, or neoplastic etiologies can mimic these phenotypes of NMOSD; (2) patients with NMOSD may only have limited clinical manifestations, especially in their early disease stages; (3) test results for AQP4-Ab can be affected by several factors such as assay methods, serologic status, disease stages, or types of treatment; (4) some patients with NMOSD do not have AQP4-Ab; and (5) test results for the AQP4-Ab may not be readily available for the acute management of patients. Despite some similarity in their phenotypes, these NMOSD and NMOSD-mimics are distinct from each other in their pathogenesis, prognosis, and most importantly treatment. Understanding the detailed clinical, serological, radiological, and prognostic differences of these diseases will improve the proper management as well as diagnosis of patients.

Recurrent Hypothalamic Dysfunction in Seropositive Neuromyelitis Optica

2020 ◽  
pp. 10.1212/CPJ.0000000000001012
Author(s):  
Mary Clare McKenna ◽  
Nuala McNicholas ◽  
Conor Fearon ◽  
David Bradley
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Neuromyelitis Optica ◽  
Clinical Manifestations ◽  
Inflammatory Disorder ◽  
Diverse Range ◽  
Hypothalamic Dysfunction ◽  
Inappropriate Secretion ◽  
Clinical Presentations ◽  
The Central Nervous System

Background:Neuromyelitis optica (NMO) is a rare autoimmune inflammatory disorder of the central nervous system1. Pathogenic aquaporin 4 (AQP4) antibodies are present in 65-88% of cases1. The majority of cases follow a relapsing course preferentially involving the optic nerves, spinal cord, brainstem, diencephalon or cerebral regions1, 2. Within the acute diencephalic clinical presentations, symptomatic hypothalamic lesions may have a diverse range of clinical manifestations including homeostatic dysfunction of neuroendocrine systems2-4. We report a case of recurrent hypothalamic dysfunction secondary to NMO manifesting as syndrome of inappropriate secretion of antidiuretic hormone (SIADH), thermal dysregulation, dysautonomia and disorder of alertness.

First Presentation of an Acquired Demyelinating Syndrome

2017 ◽  
Vol 16 (03) ◽  
pp. 164-170
Author(s):  
Rachel Gottlieb-Smith ◽  
Amy Waldman
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Optic Neuritis ◽  
Clinical Features ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
The Central Nervous System

AbstractAcquired demyelinating syndromes (ADS) present with acute or subacute monofocal or polyfocal neurologic deficits localizing to the central nervous system. The clinical features of distinct ADS have been carefully characterized including optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis. These disorders may all be monophasic disorders. Alternatively, optic neuritis, partial transverse myelitis, and acute disseminated encephalomyelitis may be first presentations of a relapsing or polyphasic neuroinflammatory disorder, such as multiple sclerosis or neuromyelitis optica. The clinical features of these disorders and the differential diagnosis are discussed in this article.

Wasted tongue in neuromyelitis optica spectrum disorders due to hypoglossal nerve involvement

2014 ◽  
Vol 21 (4) ◽  
pp. 488-491 ◽  
Author(s):  
Shanthi Viswanathan
Keyword(s):  
Differential Diagnosis ◽  
Neuromyelitis Optica ◽  
Hypoglossal Nerve ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorders ◽  
Nerve Involvement ◽  
Spectrum Disorders

We report two cases of neuromyelitis optica spectrum disorder with hypoglossal nerve involvement resulting in a wasted tongue associated with other brainstem symptoms of hypogeusia, hypersalivation, hiccough, increased sweating, hyperemesis and myelitis (in the second patient). This occurred due to involvement of the hypoglossal, tractus solitarius and dorsal vagal nuclei. Though the myelitis and other brainstem signs recovered the hypoglossal nerve involvement resulting in a unilateral wasted tongue did not. It is important to consider neuromyelitis optica and its spectrum disorders in the differential diagnosis of a wasted tongue though its occurrence is rare.

scholarly journals Neuromyelitis optica spectrum disorder in pediatrics. Case report

Case reports ◽  
2019 ◽  
Vol 5 (1) ◽  
pp. 11-18
Author(s):  
Jhon Camacho ◽  
Sebastian Zuleta ◽  
Maria Paula Alba ◽  
Andrea Hernandez ◽  
Carlos Navas
Keyword(s):  
Neuromyelitis Optica ◽  
Interesting Case ◽  
Spectrum Disorder ◽  
Demyelinating Diseases ◽  
Inflammatory Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
The Central Nervous System ◽  
High Doses ◽  
Aqp4 Antibody ◽  
Timely Treatment

Introduction: Neuromyelitis optica is an inflammatory disorder of the central nervous system that accounts for 5% of demyelinating diseases in pediatrics. Its clinical presentation is variable and associated to the involved area of the central nervous system.Case presentation: This is the case of a 15-year-old patient who consulted several times for nonspecific neurological symptoms. During his last visit to the Clínica Universitaria Colombia in Bogotá, he presented with bilateral optic neuritis, associated with frontal and parietal headache. Immunophenotyping studies were carried out, reporting positive IgG anti-aquaporin 4 antibodies (anti-AQP4 antibody), thus leading to a diagnosis of seropositive neuromyelitis optica spectrum disorder (NMOSD). Management with methylprednisolone pulses was initiated with subsequent outpatient management with rituximab that allowed stabilizing the disease.Discussion: This is an interesting case due to its insidious and uncertain onset in a pediatric patient. It was possible to evaluate clinical and diagnostic differences in relation to its presentation in adults. NMOSD mediated by anti-AQP4 is rare; brain and bone marrow MRI are essential for diagnosis. The treatment of choice for acute conditions consists of high doses of methylprednisolone.Conclusion: This disorder may result in irreversible neurological damage; for this reason, high suspicion is required for early diagnosis and timely treatment.

scholarly journals Neuromyelitis Optica Spectrum Disorders: Spectrum of MR Imaging Findings and Their Differential Diagnosis—Erratum

Radiographics ◽  
2018 ◽  
Vol 38 (2) ◽  
pp. 662-662 ◽  
Author(s):  
Bruna Garbugio Dutra ◽  
Antônio José da Rocha ◽  
Renato Hoffmann Nunes ◽  
Antônio Carlos Martins Maia Júnior
Keyword(s):  
Differential Diagnosis ◽  
Mr Imaging ◽  
Neuromyelitis Optica ◽  
Neuromyelitis Optica Spectrum Disorders ◽  
Imaging Findings ◽  
Spectrum Disorders

Neuromyelitis Optica

2017 ◽  
Author(s):  
Teri L. Schreiner ◽  
Jeffrey L. Bennett
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Optic Neuritis ◽  
Neuromyelitis Optica ◽  
Water Channel ◽  
Transverse Myelitis ◽  
Inflammatory Disorder ◽  
The Central Nervous System

Neuromyelitis optica (NMO), or Devic’s disease is an inflammatory disorder of the central nervous system that preferentially affects the optic nerves and spinal cord. Initially considered a variant of multiple sclerosis (MS), NMO is now clearly recognized to have distinct clinical, radiographic, and pathologic characteristics. Historically, the diagnosis of NMO required bilateral optic neuritis and transverse myelitis; however, the identification of a specific biomarker, NMO-IgG, an autoantibody against the aquaporin-4 (AQP4) water channel, has broadened NMO spectrum disease to include patients with diverse clinical and radiographic presentations. This chapter addresses the diagnosis, pathophysiology, and management of the disease.

scholarly journals Differential Diagnosis of Pediatric Multiple Sclerosis

Children ◽  
2019 ◽  
Vol 6 (6) ◽  
pp. 75 ◽  
Author(s):  
Maria Milagros Galardi ◽  
Cristina Gaudioso ◽  
Saumel Ahmadi ◽  
Emily Evans ◽  
Laura Gilbert ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Diagnostic Criteria ◽  
Clinical Presentation ◽  
Correct Diagnosis ◽  
Acute Disseminated Encephalomyelitis ◽  
Test Results ◽  
Pediatric Multiple Sclerosis ◽  
Ancillary Test ◽  
Spectrum Disorders

The differential diagnosis of pediatric multiple sclerosis (MS) can be broad and pose diagnostic challenges, particularly at initial presentation. Among demyelinating entities, neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibodies (MOG-ab) associated disorders, and acute disseminated encephalomyelitis (ADEM) are now well-known as unique disease processes and yet continue to overlap with MS in regards to clinical presentation and imaging. In non-inflammatory entities, such as metabolic disorders and leukodystrophies, an erroneous diagnosis of MS can be made even while applying appropriate diagnostic criteria. Knowing the epidemiology, typical clinical presentation, diagnostic criteria, and ancillary test results in each disease, can aid in making the correct diagnosis by contrasting these features with those of pediatric MS. Determining the correct diagnosis early, allows for efficient and effective treatment as well as appropriate prognostication.

scholarly journals Epidemiology of Neuromyelitis Optica in the World: A Systematic Review and Meta-Analysis

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Masoud Etemadifar ◽  
Zahra Nasr ◽  
Behrang Khalili ◽  
Maryam Taherioun ◽  
Reza Vosoughi
Keyword(s):  
Neuromyelitis Optica ◽  
Assessment Tool ◽  
Disease Incidence ◽  
Meta Analysis ◽  
Inflammatory Disorder ◽  
Incidence Data ◽  
The World ◽  
The Central Nervous System ◽  
High Level

Background.Neuromyelitis optica (Devic’s disease) is a severe autoimmune inflammatory disorder of the central nervous system. Epidemiological aspects of NMO have not been systemically reviewed. In this study we systematically reviewed and assessed the quality of studies reporting the incidence and/or prevalence of NMO across the world.Methods.A comprehensive literature search using MEDLINE, EMBASE, and Web of Science for the terms “Neuromyelitis optica,” “devic disease,” “incidence,” “prevalence,” and “epidemiology” was conducted on January 31, 2015. Study quality was assessed using an assessment tool based on recognized guidelines and designed specifically for this study.Results.A total of 216 studies were initially identified, with only 9 meeting the inclusion criteria. High level of heterogeneity amongst studies precluded a firm conclusion. Incidence data were found in four studies and ranged from 0.053 per 100,000 per year in Cuba to 0.4 in Southern Denmark. Prevalence was reported in all studies and ranged from 0.51 per 100,000 in Cuba to 4.4 in Southern Denmark.Conclusion.This review reveals the gaps that still exist in the epidemiological knowledge of NMO in the world. Published studies have different qualities and methodology precluding a robust conclusion. Future researches focusing on epidemiological features of NMO in different nations and different ethnic groups are needed.

scholarly journals Anti-B-cell therapy in patients with neuromyelitis optica spectrum disorders

2021 ◽  
Vol 13 (4) ◽  
pp. 18-24
Author(s):  
S. V. Kotov ◽  
E. S. Novikova ◽  
A. S. Kotov
Keyword(s):  
Optic Neuritis ◽  
Relapse Rate ◽  
Neuromyelitis Optica ◽  
Clinical Manifestations ◽  
Treatment Protocol ◽  
Transverse Myelitis ◽  
Neuromyelitis Optica Spectrum Disorders ◽  
Intravenous Infusions ◽  
Annualized Relapse Rate ◽  
Spectrum Disorders

Neuromyelitis optica spectrum disorders (NMOSDs) are a group of central nervous system autoimmune diseases characterized by similar clinical manifestations, optic neuritis, and transverse myelitis being the most frequent among them. In most cases, the pathogenesis of NMOSDs is associated with autoantibodies to aquaporin-4 (AQP4-IgG). However, AQP4-IgG is not detected in at least 10-20% of patients with NMOSDs. In this subgroup and in patients with isolated transverse myelitis or optic neuritis, IgG antibodies to myelin oligodendrocyte glycoprotein (MOG-IgG) were detected. Patients seronegative for both AQP4-IgG and MOG-IgG have also been described.Objective: to evaluate rituximab (RTX) effectiveness in preventing relapses and disability in patients with NMOSDs.Patients and methods. The study included 27 patients with NMOSDs (9 men and 18 women) aged 20-51 years who received RTX in 2019-2021. The treatment protocol included intravenous infusions of 1000 mg of RTX on the 1st and 15th days, the second and subsequent courses (maintenance therapy) - intravenous infusions of 1000 mg of RTX once every six months. Treatment effectiveness was assessed by the average annualized relapse rate, the median changes of the Expanded Disability Status Scale (EDSS), and based on the magnetic resonance imaging (MRI) changes.Results and discussion. The annualized relapse rate at baseline and 18 months after the start of treatment was: all patients (n=27) — 0.6±0.3 and 0.07±0.27(p<0.0001); AQP4-IgG+ patients (n=6) — 1.1±0.9 and 0.17±0.41 (p=0.028); MOG-IgG+ patients (n=14) — 0.4±0.3 and 0.07±0.28(p=0.001); AQP4-IgG-, MOG-IgG-patients (n=7) — 0.8±0.4 and 0.0±0.0 (p=0.018). The EDSSscore at baseline and 18months after the start of treatment was: all patients — 4.5 [3.25; 6.0] and 4.0 [3.0; 5.75] (p=0.679); AQP4-IgG+ — 3.5 [2.625; 4.75] and 3.5 [2.5; 4.5] (p=0.869); MOG-IgG+ - 5.5[3.75; 6.5] and 5.5[2.75; 6.25] (p=0.465); AQP4-IgG-, MOG-IgG- - 4.0[3.75; 5.25] and 3.5[3.0; 3.5] (p=0.043). We observed two clinical relapses during the study period: one in an AQP4-IgG+ male and another one in a MOG-IgG+ woman. There was a significant decrease in the annualized relapse rate in all groups. The disability indicator did not increase during the study period, and in AQP4-IgG and MOG-IgG seronegative patients, it slightly but significantly decreased. Brain and spinal cord MRI monitoring during the treatment period revealed new active foci only in two patients with clinical relapses.Conclusion. RTX treatment in NMOSDs is reasonably efficient and safe, but with the obligatory prior patient evaluation and monitoring of treatment results.

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