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 A Rare Presentation of Neuromyelitis Optica Spectrum Disorders

2018 ◽  
Vol 11 ◽  
pp. 117954761775268
Author(s):  
Navneet K Singh ◽  
Alexander J Sweidan ◽  
Sarah Strube ◽  
Ignacio Carrillo-Nunez
Keyword(s):  
Neuromyelitis Optica ◽  
Disease Process ◽  
Transverse Myelitis ◽  
Aquaporin 4 ◽  
Treatment Modalities ◽  
High Dose ◽  
Neuromyelitis Optica Spectrum Disorders ◽  
Rare Presentation ◽  
Lower Extremity Weakness ◽  
Spectrum Disorders

Neuromyelitis optica spectrum disorders (NMOSDs) are a set of demyelinating disorders that primarily target the optic nerves and the spinal cord. Previously thought to be a subset of multiple sclerosis (MS), now is recognized as a distinct entity. We present a 59-year-old female patient who was admitted for acute upper and lower extremity weakness. The patient had woken up from sleep with sudden onset of weakness. Patient was initially diagnosed with a right hemispheric stroke; however, magnetic resonance imaging of the cervical spine later performed showed abnormal enhancement from C2-C4, representing transverse myelitis. Cerebrospinal fluid was negative for organisms and inflammatory biomarkers. An anti-aquaporin-4 receptor antibody titer was found to be elevated with titers >80 units/mL. The patient was treated with high-dose steroids and plasmapheresis. The NMOSD is a rare entity and, here, we present a rare presentation of the disease. Since its description in 1870, it was confused with MS for years. The advent of anti-aquaporin-4 antibody has been instrumental in differentiating the disease process from MS. This distinction is important, in terms of agents used for treatment and prognostication. The NMOSD is a set of debilitating disease, which requires prompt recognition and appropriate treatment, to avoid the disabling sequelae. Future prospects of the disease include development of novel biological treatment modalities which focus on restoring the loss of immune tolerance which is key to the pathogenesis of the disease.

scholarly journals Severe aquaporin 4-IgG-positive neuromyelitis optica with disseminated herpes zoster in a pregnant woman successfully treated with intravenous immunoglobulin

2018 ◽  
Vol 4 (1) ◽  
pp. 205521731875811
Author(s):  
Yuki Matsumoto ◽  
Mario Tsuchiya ◽  
Shakespear Norshalena ◽  
Chikako Kaneko ◽  
Jin Kubo ◽  
...  
Keyword(s):  
Herpes Zoster ◽  
Pregnant Woman ◽  
Intravenous Immunoglobulin ◽  
Neuromyelitis Optica ◽  
Rescue Therapy ◽  
Transverse Myelitis ◽  
Aquaporin 4 ◽  
High Dose ◽  
Healthy Baby ◽  
Severe Infections

A 26-year-old, 17-week pregnant woman developed aquaporin-4-IgG-positive severe longitudinally extensive transverse myelitis during the course of disseminated herpes zoster and became quadriparetic. She was unresponsive to high-dose intravenous methylprednisolone but became able to walk without assistance after intravenous immunoglobulin. One and a half months later, left optic neuritis developed but her vision improved with intravenous immunoglobulin. The only sequela was left T5 girdle sensation, and she delivered a healthy baby. Intravenous immunoglobulin may be a rescue therapy in aquaporin-4-IgG-positive neuromyelitis optica attacks in pregnant women, especially those with severe infections.

scholarly journals Demyelinating Syndrome in Systemic Sclerosis and Neuromyelitis Optica

2019 ◽  
Author(s):  
khaled Deeb ◽  
Jessika Eby ◽  
Jose Labault-Santiago
Keyword(s):  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Neuromyelitis Optica ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Clinical Findings ◽  
Therapeutic Interventions ◽  
High Dose ◽  
Scleroderma Renal Crisis

Abstract INTRODUCTION: The objective of this study is to report a case of a 44-year-old female who presented with intractable hiccups, vomiting, and later complicated with paraplegia. Imaging and sero/immunological studies were consistent with Neuromyelitis Optica (NMO) based on NMO-IgG sero-positivity and transverse myelitis on MRI. Further investigation revealed positive ANA, anti-RNA polymerase III autoantibodies, and Scl-70, leading to a concurrent diagnosis of systemic sclerosis (SSc). The coexistence of these two disease processes, namely systemic sclerosis and neuromyelitis optica, and their underlying clinical manifestations and therapeutic interventions, are seldom reported in literature and are worth reporting. CASE REPORT: The patient was treated with high dose steroids, and subsequently developed malignant hypertension and acute renal failure, later identified as steroid induced scleroderma renal crisis on renal biopsy. Although Neuromyelitis Optica spectrum disorder (NMOSD) has often been associated with various collagen and autoimmune diseases, the coexistence of NMOSD and SSc presented a challenge where patient underwent aggressive physical therapy and necessitated an intervention with Rituximab to achieve an appropriate clinical response. We have received consent forms from the participant in our study, and we have them on file in case they are requested. We have also received patient’s consent for the data presented in this article and Figure 1. CONCLUSION: This report expands on NMOSD associated autoimmune diseases. Systemic Sclerosis is an insidious disease that is often diagnosed late as not all patients often report skin manifestation. The finding suggests that patients presenting with acute neurological manifestations get tested for NMO-IgG/AQP-4 antibodies and other immunological studies based on clinical findings.

scholarly journals Case Report: Postvaccination Anti–Myelin Oligodendrocyte Glycoprotein Neuromyelitis Optica Spectrum Disorder

2020 ◽  
Vol 22 (2) ◽  
pp. 85-90 ◽  
Author(s):  
Neha Kumar ◽  
Kelsey Graven ◽  
Nancy I. Joseph ◽  
John Johnson ◽  
Scott Fulton ◽  
...  
Keyword(s):  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
First Trimester ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Spectrum Disorder ◽  
Aquaporin 4 ◽  
Future Research ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
The Central Nervous System

Abstract Stimulation of the immune response after vaccination can occasionally result in adverse effects, including demyelination of the central nervous system. The most common presentation of postvaccination demyelination is acute disseminated encephalomyelitis, but cases of optic neuritis, transverse myelitis, and multiple sclerosis relapses have been reported. More recently, an increasing number of postvaccination neuromyelitis optica spectrum disorder (NMOSD) cases have surfaced in the literature, especially in patients with aquaporin-4 antibodies. In this article, we report an unusual case of myelin oligodendrocyte glycoprotein antibody–related NMOSD after the receipt of multiple vaccines in a first-trimester pregnant woman from Africa. We review the reported cases of postvaccination demyelination in the past decade, with a focus on the relationship between NMOSD and vaccination in patients with aquaporin-4 or myelin oligodendrocyte glycoprotein antibodies. Finally, we discuss the clinical relevance of the present case and similar reported cases as it relates to patient care in the neuroimmunology clinic and identify potential areas for future research.

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 Demyelinating syndrome in systemic sclerosis and neuromyelitis optica

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Khaled Deeb ◽  
Jessika Eby ◽  
Jose Labault-Santiago
Keyword(s):  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Neuromyelitis Optica ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Clinical Findings ◽  
Therapeutic Interventions ◽  
High Dose ◽  
Scleroderma Renal Crisis

Abstract Background This article reports a case diagnosis of a 44-year-old female who presented with intractable hiccups and vomit complicated with an acute onset of paraplegia. Transverse myelitis was evident on MRI and serological studies were consistent with Neuromyelitis Optica (NMO) based on NMO-IgG sero-positivity. Further studies revealed positive ANA, anti-RNA polymerase III autoantibodies, and Scl-70, leading to a concurrent diagnosis of systemic sclerosis (SSc). The coexistence of these two disease processes and their underlying clinical manifestations and therapeutic interventions are seldom reported in literature and are worth reporting. Case presentation The patient was treated with high dose steroids, and subsequently developed malignant hypertension and acute renal failure, later identified on biopsy as steroids-induced scleroderma renal crisis. Although Neuromyelitis Optica spectrum disorder (NMOSD) has often been associated with various collagen and autoimmune diseases, the coexistence of NMOSD and SSc presented a challenge where the patient underwent aggressive physical therapy and necessitated an intervention with Rituximab to achieve an appropriate clinical response. We have received a written consent forms from the participant in our study, and we have them on file in case they are requested. We have also received the patient’s written consent for the data and images presented in this article. Conclusion This article expands on NMOSD associated autoimmune diseases. Systemic Sclerosis is an insidious disease that is often diagnosed late as not all patients often report skin manifestation. The finding suggests that patients presenting with acute neurological manifestations get tested for NMO-IgG/AQP-4 antibodies and other immunological studies based on clinical findings.

scholarly journals Demyelinating Syndrome in Systemic Sclerosis and Neuromyelitis Optica

2019 ◽  
Author(s):  
khaled Deeb ◽  
Jessika Eby ◽  
Jose Labault-Santiago
Keyword(s):  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Neuromyelitis Optica ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Clinical Findings ◽  
Therapeutic Interventions ◽  
High Dose ◽  
Scleroderma Renal Crisis

Abstract INTRODUCTION: The objective of this study is to report a case of a 44-year-old female who presented with intractable hiccups, vomiting, and later complicated with paraplegia. Imaging and sero/immunological studies were consistent with Neuromyelitis Optica (NMO) based on NMO-IgG sero-positivity and transverse myelitis on MRI. Further investigation revealed positive ANA, anti-RNA polymerase III autoantibodies, and Scl-70, leading to a concurrent diagnosis of systemic sclerosis (SSc). The coexistence of these two disease processes, namely systemic sclerosis and neuromyelitis optica, and their underlying clinical manifestations and therapeutic interventions, are seldom reported in literature and are worth reporting. CASE REPORT: The patient was treated with high dose steroids, and subsequently developed malignant hypertension and acute renal failure, later identified as steroid induced scleroderma renal crisis on renal biopsy. Although Neuromyelitis Optica spectrum disorder (NMOSD) has often been associated with various collagen and autoimmune diseases, the coexistence of NMOSD and SSc presented a challenge where patient underwent aggressive physical therapy and necessitated an intervention with Rituximab to achieve an appropriate clinical response. We have received consent forms from the participant in our study, and we have them on file in case they are requested. We have also received patient’s consent for the data presented in this article and Figure 1. CONCLUSION: This report expands on NMOSD associated autoimmune diseases. Systemic Sclerosis is an insidious disease that is often diagnosed late as not all patients often report skin manifestation. The finding suggests that patients presenting with acute neurological manifestations get tested for NMO-IgG/AQP-4 antibodies and other immunological studies based on clinical findings.

scholarly journals Demyelinating Syndrome in Systemic Sclerosis and Neuromyelitis Optica

2019 ◽  
Author(s):  
khaled Deeb ◽  
Jessika Dold ◽  
Jose Labault-Santiago
Keyword(s):  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Neuromyelitis Optica ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Clinical Findings ◽  
Therapeutic Interventions ◽  
High Dose ◽  
Scleroderma Renal Crisis

Abstract INTRODUCTION: The objective of this study is to report a case of a 44-year-old female who presented with intractable hiccups, vomiting, and later complicated with paraplegia. Imaging and sero/immunological studies were consistent with Neuromyelitis Optica (NMO) based on NMO-IgG sero-positivity and transverse myelitis on MRI. Further investigation revealed positive ANA, anti-RNA polymerase III autoantibodies, and Scl-70, leading to a concurrent diagnosis of systemic sclerosis (SSc). The coexistence of these two disease processes, namely systemic sclerosis and neuromyelitis optica, and their underlying clinical manifestations and therapeutic interventions, are seldom reported in literature and are worth reporting. CASE REPORT: The patient was treated with high dose steroids, and subsequently developed malignant hypertension and acute renal failure, later identified as steroid induced scleroderma renal crisis on renal biopsy. Although Neuromyelitis Optica spectrum disorder (NMOSD) has often been associated with various collagen and autoimmune diseases, the coexistence of NMOSD and SSc presented a challenge where patient underwent aggressive physical therapy and necessitated an intervention with Rituximab to achieve an appropriate clinical response. We have received consent forms from the participant in our study, and we have them on file in case they are requested. We have also received patient’s consent for the data presented in this article and Figure 1. CONCLUSION: This report expands on NMOSD associated autoimmune diseases. Systemic Sclerosis is an insidious disease that is often diagnosed late as not all patients often report skin manifestation. The finding suggests that patients presenting with acute neurological manifestations get tested for NMO-IgG/AQP-4 antibodies and other immunological studies based on clinical findings.

Contribution of spinal cord biopsy to diagnosis of aquaporin-4 antibody positive neuromyelitis optica spectrum disorder

2013 ◽  
Vol 20 (7) ◽  
pp. 882-888 ◽  
Author(s):  
M Ringelstein ◽  
I Metz ◽  
K Ruprecht ◽  
A Koch ◽  
J Rappold ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Aquaporin 4 ◽  
Diagnostic Process ◽  
Antibody Testing ◽  
Magnetic Resonance Imaging Mri ◽  
Extensive Transverse Myelitis ◽  
Aqp4 Antibody

Longitudinally extensive transverse myelitis is characteristic but not pathognomonic for neuromyelitis optica spectrum disorders (NMOSDs) and may mimic local tumors. In this retrospective study based on a cohort of 175 NMOSD patients we identified seven patients who initially presented with a longitudinally extensive spinal cord lesion and underwent spinal cord biopsy due to magnetic resonance imaging (MRI)-suspected malignancies. Remarkably, routine neuropathology was inconclusive and did not guide the diagnostic process to anti-aquaporin-4 (AQP4)-seropositive NMOSD. Serious postoperative complications occurred in 5/7 patients and persisted during follow-up in 2/7 patients (29%). Considering these sequelae, AQP4-antibody testing should be mandatory in patients with inconclusive longitudinally extensive spinal cord lesions prior to biopsy.

scholarly journals Demyelinating Syndrome in Systemic Sclerosis and Neuromyelitis Optica

2019 ◽  
Author(s):  
khaled Deeb ◽  
Jessika Eby ◽  
Jose Labault-Santiago
Keyword(s):  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Neuromyelitis Optica ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Clinical Findings ◽  
Therapeutic Interventions ◽  
High Dose ◽  
Scleroderma Renal Crisis

Abstract INTRODUCTION: The objective of this study is to report a case of a 44-year-old female who presented with intractable hiccups, vomiting, and later complicated with paraplegia. Imaging and sero/immunological studies were consistent with Neuromyelitis Optica (NMO) based on NMO-IgG sero-positivity and transverse myelitis on MRI. Further investigation revealed positive ANA, anti-RNA polymerase III autoantibodies, and Scl-70, leading to a concurrent diagnosis of systemic sclerosis (SSc). The coexistence of these two disease processes, namely systemic sclerosis and neuromyelitis optica, and their underlying clinical manifestations and therapeutic interventions, are seldom reported in literature and are worth reporting. CASE REPORT: The patient was treated with high dose steroids, and subsequently developed malignant hypertension and acute renal failure, later identified as steroid induced scleroderma renal crisis on renal biopsy. Although Neuromyelitis Optica spectrum disorder (NMOSD) has often been associated with various collagen and autoimmune diseases, the coexistence of NMOSD and SSc presented a challenge where patient underwent aggressive physical therapy and necessitated an intervention with Rituximab to achieve an appropriate clinical response. We have received consent forms from the participant in our study, and we have them on file in case they are requested. We have also received patient’s consent for the data presented in this article and Figure 1. CONCLUSION: This report expands on NMOSD associated autoimmune diseases. Systemic Sclerosis is an insidious disease that is often diagnosed late as not all patients often report skin manifestation. The finding suggests that patients presenting with acute neurological manifestations get tested for NMO-IgG/AQP-4 antibodies and other immunological studies based on clinical findings.

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