Diagnosis and Treatment of Neuromyelitis Optica

US Neurology ◽  
2009 ◽  
Vol 05 (01) ◽  
pp. 56
Author(s):  
Marcelo Matiello ◽  
Brian G Weinshenker ◽  
◽  
Keyword(s):  
Neuromyelitis Optica ◽  
Early Recognition ◽  
Water Channel ◽  
Basic Research ◽  
Immunosuppressive Drugs ◽  
High Dose ◽  
Autoimmune Inflammatory Disease ◽  
The Central Nervous System ◽  
New Treatments

Neuromyelitis optica (NMO), an autoimmune inflammatory disease of the central nervous system (CNS), is characterized by severe attacks of optic neuritis and myelitis. A specific immunoglobulin G1 (IgG1) autoantibody, NMO-IgG, is present in NMO patients. Its discovery facilitates the early recognition of NMO, differentiation of NMO from multiple sclerosis (MS), and recognition of a broader spectrum of manifestations of NMO. Following an attack of NMO, high-dose intravenous methylprednisolone is the treatment of choice. Plasmapheresis is recommended for attacks that do not respond to first-line treatment. For long-term relapse prevention, immunosuppressive drugs such as azathioprine, mycophenolate mofetil, rituximab, and mitoxantrone are recommended rather than the immunomodulatory agents used for MS. The study of NMO has rapidly progressed due to the successful translation of the discovery of a specific biomarker into clinical practice and basic research. The discovery of the antigenic target of NMO-IgG, the water channel aquaporin-4, improved understanding of the physiopathology of NMO and may lead to the development of new treatments.

scholarly journals Treatment of neuromyelitis optica: an evidence based review

2012 ◽  
Vol 70 (1) ◽  
pp. 59-66 ◽  
Author(s):  
Douglas Sato ◽  
Dagoberto Callegaro ◽  
Marco Aurélio Lana-Peixoto ◽  
Kazuo Fujihara
Keyword(s):  
Neuromyelitis Optica ◽  
Water Channel ◽  
Transverse Myelitis ◽  
High Dose ◽  
Open Label ◽  
Oral Corticosteroids ◽  
Dose Oral ◽  
The Central Nervous System ◽  
Therapy Strategies ◽  
Positive Results

Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system characterized by severe optic neuritis and transverse myelitis, usually with a relapsing course. Aquaporin-4 antibody is positive in a high percentage of NMO patients and it is directed against this water channel richly expressed on foot processes of astrocytes. Due to the severity of NMO attacks and the high risk for disability, treatment should be instituted as soon as the diagnosis is confirmed. There is increasing evidence that NMO patients respond differently from patients with multiple sclerosis (MS), and, therefore, treatments for MS may not be suitable for NMO. Acute NMO attacks usually are treated with high dose intravenous corticosteroid pulse and plasmapheresis. Maintenance therapy is also required to avoid further attacks and it is based on low-dose oral corticosteroids and non-specific immunosuppressant drugs, like azathioprine and mycophenolate mofetil. New therapy strategies using monoclonal antibodies like rituximab have been tested in NMO, with positive results in open label studies. However, there is no controlled randomized trial to confirm the safety and efficacy for the drugs currently used in NMO.

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 Neuromyelitis Optica Spectrum Disorder and Anti-MOG Syndromes

Biomedicines ◽  
2019 ◽  
Vol 7 (2) ◽  
pp. 42 ◽  
Author(s):  
Marco A. Lana-Peixoto ◽  
Natália Talim
Keyword(s):  
Optic Neuritis ◽  
Neuromyelitis Optica ◽  
Area Postrema ◽  
Water Channel ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Immunosuppressive Drugs ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder

Neuromyelitis optica spectrum disorder (NMOSD) and anti-myelin oligodendrocyte glycoprotein (anti-MOG) syndromes are immune-mediated inflammatory conditions of the central nervous system that frequently involve the optic nerves and the spinal cord. Because of their similar clinical manifestations and habitual relapsing course they are frequently confounded with multiple sclerosis (MS). Early and accurate diagnosis of these distinct conditions is relevant as they have different treatments. Some agents used for MS treatment may be deleterious to NMOSD. NMOSD is frequently associated with antibodies which target aquaporin-4 (AQP4), the most abundant water channel in the CNS, located in the astrocytic processes at the blood-brain barrier (BBB). On the other hand, anti-MOG syndromes result from damage to myelin oligodendrocyte glycoprotein (MOG), expressed on surfaces of oligodendrocytes and myelin sheaths. Acute transverse myelitis with longitudinally extensive lesion on spinal MRI is the most frequent inaugural manifestation of NMOSD, usually followed by optic neuritis. Other core clinical characteristics include area postrema syndrome, brainstem, diencephalic and cerebral symptoms that may be associated with typical MRI abnormalities. Acute disseminated encephalomyelitis and bilateral or recurrent optic neuritis are the most frequent anti-MOG syndromes in children and adults, respectively. Attacks are usually treated with steroids, and relapses prevention with immunosuppressive drugs. Promising emerging therapies for NMOSD include monoclonal antibodies and tolerization.

Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease

2016 ◽  
Vol 23 (1) ◽  
pp. 119-122 ◽  
Author(s):  
Barbara Girard ◽  
Chrystèle Bonnemains ◽  
Emmanuelle Schmitt ◽  
Emmanuel Raffo ◽  
Claire Bilbault
Keyword(s):  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Biotinidase Deficiency ◽  
Demyelinating Diseases ◽  
High Dose ◽  
Control Value ◽  
Inflammatory Conditions ◽  
Acylcarnitine Profile ◽  
Csf Lactate ◽  
The Central Nervous System

Background: Metabolic and inflammatory conditions may lead to neurological disorders. Neuromyelitis optica spectrum disorders (NMOSDs) refer to a rare group of demyelinating diseases of the central nervous system which essentially involve the optic nerves and spinal cord. Methods: We report a case of biotinidase deficiency (BD) initially misdiagnosed as NMOSD in a pediatric patient. Results: An 8-year-old girl was initially diagnosed with NMOSD on the basis of optic neuritis (ON) associated with three episodes of longitudinally extensive transverse myelitis (LETM). Intravenous high-dose corticosteroids were effective during the first two episodes of LETM. The third acute episode which resulted in tetraplegia, respiratory distress, and blindness was refractory to corticosteroids, plasmapheresis, and rituximab. The unusual clinical course and persistent high levels of plasma and cerebrospinal fluid (CSF) lactate led to additional metabolic investigations being performed. Acylcarnitine profile revealed increased C5-OH acylcarnitine suggestive of BD. Diagnosis was confirmed by direct assessment of plasma enzyme activity (quantified as 5% of the control value). Genetic analysis revealed two mutations, c.643C>T (p.L215F) and c.1612C>T (p.R538C), in the BTD gene (3p25). Dramatic clinical improvement occurred after long-term oral biotin treatment. Conclusion: BD is a treatable condition that may closely mimic the neurological findings of LETM and NMOSD.

scholarly journals Metabolomic Profiling in Neuromyelitis Optica Spectrum Disorder Biomarker Discovery

Metabolites ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 374
Author(s):  
Maxton E. Thoman ◽  
Susan C. McKarns
Keyword(s):  
Neuromyelitis Optica ◽  
Biomarker Discovery ◽  
Clinical Symptoms ◽  
Water Channel ◽  
Short Chain Fatty Acids ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Specific Test ◽  
Metabolomic Profiling ◽  
The Central Nervous System

There is no specific test for diagnosing neuromyelitis optica spectrum disorder (NMOSD), a disabling autoimmune disease of the central nervous system. Instead, diagnosis relies on ruling out other related disorders with overlapping clinical symptoms. An urgency for NMOSD biomarker discovery is underscored by adverse responses to treatment following misdiagnosis and poor prognosis following the delayed onset of treatment. Pathogenic autoantibiotics that target the water channel aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) contribute to NMOSD pathology. The importance of early diagnosis between AQP4-Ab+ NMOSD, MOG-Ab+ NMOSD, AQP4-Ab− MOG-Ab− NMOSD, and related disorders cannot be overemphasized. Here, we provide a comprehensive data collection and analysis of the currently known metabolomic perturbations and related proteomic outcomes of NMOSD. We highlight short chain fatty acids, lipoproteins, amino acids, and lactate as candidate diagnostic biomarkers. Although the application of metabolomic profiling to individual NMOSD patient care shows promise, more research is needed.

scholarly journals Novel Targets for Drug Use in Eosinophilic Granulomatosis With Polyangiitis

2021 ◽  
Vol 8 ◽  
Author(s):  
Martina Uzzo ◽  
Francesca Regola ◽  
Barbara Trezzi ◽  
Paola Toniati ◽  
Franco Franceschini ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Immunosuppressive Drugs ◽  
Term Therapy ◽  
High Dose ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Small Vessels ◽  
New Therapeutic Approaches ◽  
Personalized Approach ◽  
Eosinophilic Granulomatosis

Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease characterized by medium and small vessels inflammation. Cardiac vasculitic involvement is one of the most severe manifestations with a significant impact on patients' long-term prognosis: anyway, a specific therapeutic approach for heart involvement in EGPA has not been explored yet. Current regimen consists of a long-term therapy with high dose of glucocorticoids, causing the well-known related-adverse events; immunosuppressive drugs are used in patients with severe manifestations, with some limitations. New therapeutic approaches are needed for patients with refractory disease or contraindications to conventional therapies. The quest for the ideal therapy is going toward a more and more personalized approach: on the one hand, efforts are made to use already existing therapies in the most appropriate way; on the other hand, new insights into EGPA pathogenesis allow the discovery of new targets, as demonstrated by mepolizumab and rituximab, targeting eosinophils, and B-cell compartments. This review summarizes the emerging therapies used in EGPA, focusing on the most recent studies on biologics and analyzing their efficacy and safety.

scholarly journals Acute Respiratory Failure due to Neuromyelitis Optica Treated Successfully with Plasmapheresis

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Massa Zantah ◽  
Timothy B. Coyle ◽  
Debapriya Datta
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Neuromyelitis Optica ◽  
Cervical Spinal Cord ◽  
High Dose ◽  
Pulse Dose ◽  
The Central Nervous System

Neuromyelitis Optica (NMO) is a demyelinating autoimmune disease involving the central nervous system. Acute respiratory failure from cervical myelitis due to NMO is known to occur but is uncommon in monophasic disease and is treated with high dose steroids. We report a case of a patient with NMO who developed acute respiratory failure related to cervical spinal cord involvement, refractory to pulse dose steroid therapy, which resolved with plasmapheresis.

scholarly journals SYRINGOMYELIA IN NEUROMYELITIS OPTICA SEROPOSITIVE FOR AQUAPORIN-4 ANTIBODY: A CASE REPORT

2021 ◽  
Vol 9 (10) ◽  
pp. 656-659
Author(s):  
Maria Nina Grace Q. Bastinen , MD
Keyword(s):  
Neuromyelitis Optica ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Aquaporin 4 ◽  
Diagnostic Process ◽  
High Dose ◽  
Lower Extremity Weakness ◽  
Key Factor ◽  
The Central Nervous System ◽  
Significant Discovery

Neuromyelitis Optica (previously called Devics disease) is an autoimmune-induced demyelinating disorder of the central nervous system that primarily affects the optic nerves and spinal cord. This manuscript presents a case of a 28-yearold female patient who clinically presented with acute lower extremity weakness and numbness associated with unilateral impairment of vision. Later in the course of the disease, magnetic resonance imaging of the cervico-thoracic spine showed multi-level abnormal non-enhancing and enhancing lesions from levels C3 to T8 levels which were identified to be combined transverse myelitis and cord syrinx. An anti-aquaporin-4 receptor antibody was obtained and yielded to be seropositive. Given the patients clinical manifestations, combined with imaging and laboratory examinations, led to a diagnosis of Neuromyelitis Optica (NMO). The patient was managed with high-dose steroids. The significant discovery of anti-aquaporin-4 antibodies served as a key factor in the NMO immunopathogenesis. It is currently regarded as a specific biomarker of the diagnostic process, making it distinguishable from multiple sclerosis. This case highlights the mechanism of formation of a fluid-filled syrinx-like cavity in the cord in the setting of Neuromyelitis Optica.

scholarly journals Treatment of Neuromyelitis Optica Spectrum Disorders

2021 ◽  
Vol 22 (16) ◽  
pp. 8638
Author(s):  
Koon-Ho Chan ◽  
Chi-Yan Lee
Keyword(s):  
Side Effects ◽  
Neuromyelitis Optica ◽  
Water Channel ◽  
Transverse Myelitis ◽  
Aquaporin 4 ◽  
Reproductive Age ◽  
Glutamate Excitotoxicity ◽  
In Vivo Studies ◽  
Inflammatory Disorder

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune central nervous system (CNS) inflammatory disorder that can lead to serious disability and mortality. Females are predominantly affected, including those within the reproductive age. Most patients develop relapsing attacks of optic neuritis; longitudinally extensive transverse myelitis; and encephalitis, especially brainstem encephalitis. The majority of NMOSD patients are seropositive for IgG autoantibodies against the water channel protein aquaporin-4 (AQP4-IgG), reflecting underlying aquaporin-4 autoimmunity. Histological findings of the affected CNS tissues of patients from in-vitro and in-vivo studies support that AQP4-IgG is directly pathogenic in NMOSD. It is believed that the binding of AQP4-IgG to CNS aquaporin-4 (abundantly expressed at the endfoot processes of astrocytes) triggers astrocytopathy and neuroinflammation, resulting in acute attacks. These attacks of neuroinflammation can lead to pathologies, including aquaporin-4 loss, astrocytic activation, injury and loss, glutamate excitotoxicity, microglial activation, neuroinflammation, demyelination, and neuronal injury, via both complement-dependent and complement-independent pathophysiological mechanisms. With the increased understanding of these mechanisms underlying this serious autoimmune astrocytopathy, effective treatments for both active attacks and long-term immunosuppression to prevent relapses in NMOSD are increasingly available based on the evidence from retrospective observational data and prospective clinical trials. Knowledge on the indications and potential side effects of these medications are essential for a clear evaluation of the potential benefits and risks to NMOSD patients in a personalized manner. Special issues such as pregnancy and the coexistence of other autoimmune diseases require additional concern and meticulous care. Future directions include the identification of clinically useful biomarkers for the prediction of relapse and monitoring of the therapeutic response, as well as the development of effective medications with minimal side effects, especially opportunistic infections complicated by long-term immunosuppression.

Trichotillomania in a child with nephrotic syndrome: An unusual steroid induced psychiatric manifestation

2021 ◽  
pp. 004947552110161
Author(s):  
Lesa Dawman ◽  
Arti Yadav ◽  
Indar K Sharawat ◽  
Santhiya Srinivasan ◽  
Akhilesh Sharma ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Marked Improvement ◽  
Early Recognition ◽  
Psychological Effects ◽  
High Dose ◽  
Abnormal Behaviour ◽  
Mood Changes ◽  
Steroid Dependent ◽  
Rule Out

Steroid-induced psychosis is a known serious adverse effect seen commonly in adults but less commonly in children. We present a seven-year-old girl with steroid-dependent nephrotic syndrome who developed abnormal behaviour, trichotillomania, alopecia and mood changes. She was investigated to rule out other causes and treated with tapering steroids, fluoxetine and olanzapine. A marked improvement was noted after two months. Patients on long term or high dose steroids should be monitored for adverse psychological effects of steroids, as early recognition and intervention can improve the outcome.

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