Miller Fisher Syndrome Research Articles

Miller fisher syndrome with positive anti-GQ1b/GT1a antibodies associated with COVID-19 infection: A case report

Miller fisher syndrome with positive anti-GQ1b/GT1a antibodies associated with COVID-19 infection: A case report

Binocular Diplopia as Ocular Manifestation in Pediatric Miller Fisher

Miller Fisher Syndrome (MFS) is a rare variant of neuropathy spectrum of Guillain-Barré syndrome that occur less frequently in children. 11 years old suffered from weakness of limbs with walking and posture bearing difficulty for 3 days before admission. Patient also had complaint of double vision with gaze restriction and difficulty while chewing or swallowing. During admission patient had respiratory failure that inquired intubation and ventilator support. Clinical improvement was achieved after patient was intravenous immunoglobulin (IVIG) for 5 days. First ophthalmology examination showed 15 degrees exotropia of left eye with 30 prism dioptres (PD) at near and far distance. The Worth four dot test revealed crossed diplopia, along with gaze restrictions in all directions. Follow-up 2 months after admission, the patient's symptoms had resolved. Miller Fisher Syndrome (MFS) is diagnosed clinically, characterized by the triad of ataxia, areflexia, and ophthalmoplegia. Treatment for MFS primarily involves supportive care, including respiratory support and immunotherapy if required. The prognosis for MFS is generally favorable. Recovery usually starts in two until four weeks after onset and generally completing within six months.

Normal CSF and EMG Findings in a Patient with Miller Fisher Syndrome

Normal CSF and EMG Findings in a Patient with Miller Fisher Syndrome

A Rare Case Report of Miller Fisher Syndrome Overlapping with Myasthenia Gravis

A Rare Case Report of Miller Fisher Syndrome Overlapping with Myasthenia Gravis

B-080 Development and Validation of a GQ1b IgG ELISA as a Diagnostic Aid for Subacute Demyelinating Polyneuropathies

Abstract Background Autoimmunity targeting GQ1b is associated with group of disorders that includes Miller-Fisher Syndrome (MFS), Bickerstaff Brainstem Encephalitis (BBE) and classic Guillain Barre Syndrome (GBS) with ophthalmoplegia. Collectively these are referred to as GQ1B-IgG related syndromes. The prevalence of GQ1b-IgG in this population of patients is high and has been reported to be >80% in well-defined clinical cohorts. Clinical phenotypic presentation is diverse and requires highly accurate antibody testing. The objective of this study was to evaluate a newly developed custom GQ1b-IgG assay, using a semi-quantitative ELISA-based method. Methods A GQ1b-IgG ELISA was developed and validated. Patient sera along with assay controls and a single-point calibrator are diluted and incubated in duplicate wells in a 96-well plate coated with GQ1b antigen. The plate is washed and incubated with anti-human-IgG secondary antibody conjugated with HRP. After a colorimetric reaction, optical densities (OD) are read. The OD of patient samples are compared against the calibrator, generating a cut-off index (COI). Samples ≥1.0 COI are considered positive. During the validation phase, analytical and clinical performance characteristics were evaluated. Studies included assessment of imprecision at multiple concentrations of GQ1b-IgG, accuracy using method comparison, analytical sensitivity and specificity, reference range, common interferences, plate drift, and clinical performance in relevant disease and control cohorts. Results Intra-assay imprecision (coefficient of variation; %CV) ranged from 1.0 - 16% across all concentrations of GQ1b-IgG. Inter-assay imprecision (%CV) ranged from 12.4 - 44.5% but was <20% at or above the assay cut-off. We found perfect qualitative agreement with an independent ELISA reference method (20 positive and 20 negative samples selected based on reference method results [reference interval <1:100]). Limit of detection (LOD) was calculated at a COI of 0.22. To assess analytical specificity, 40 samples with high concentrations of immunoglobulins (hypergammaglobulinemia [N=15], IgG M-protein [N=15] and systemic lupus erythematosus [N=10] were tested and all were negative. A reference interval study was performed on 140 healthy donor serums, all were negative. Interference studies were conducted on 2 positive and 2 negative serum samples, spiked for highly hemolytic (1000 mg/dL), lipemic (2000 mg/dL) and icteric (60 mg/dL) conditions. There was no impact on the assay even with high levels of a given interferent. Plate drift on 2 distinct patient pools tested across the plate (COI range 0.7 - 1.3) had overall plate CV’s ≤10%. ROC analysis was performed on a cohort of 278 patient samples (15 MFS cases and 263 controls [suspected demyelinating neuropathy or disease mimics]). A cut-off value of 1.0 (COI) was selected based on the Youden index. At this cut-off, clinical sensitivity for MFS was 87% while clinical specificity was 99.2%. Conclusions The observed performance of the GQ1b-IgG ELISA was acceptable for clinical laboratory implementation. A COI of ≥ 1.0 was selected for clinical use.

Prevalencia de las manifestaciones neuropsiquiátricas en lupus eritematoso sistémico

Introduction: neuropsychiatric (NP) manifestations in systemic lupus erythematosus (SLE) are common and have gained interest due to their increasing prevalence. Their clinical recognition is difficult because of their diverse and variable presentation. This study is focused on highlighting the forms of NP involvement for their recognition and treatment. Objective: to determine NPSLE manifestations prevalence in SLE patients aged 18 years or older. Materials and methods: a systematic review of the scientific literature in various databases, selecting cross-sectional and prevalence studies evaluating NPSLE manifestations. Results: 26 articles which met the inclusion criteria were selected, the most common manifestations being headache, seizures, cognitive dysfunction, depression, and anxiety. Other less frequent manifestations include myasthenia gravis, Miller Fisher syndrome, mononeuritis multiplex and concentration loss. Conclusion: both neurological and psychiatric manifestations studied, have a high prevalence in the total population, and are not always recognized by clinicians, lacking a timely diagnosis to determine whether they are caused by SLE disease activity on the nervous system or other end-organ dysfunctions.

Miller-Fisher syndrome and monoclonal gammopathy in a patient with ankylosing spondylitis

Miller-Fisher syndrome and monoclonal gammopathy in a patient with ankylosing spondylitis

AN OVERLAP OF GUILLAIN-BARRÉ SYNDROME, MILLER-FISHER SYNDROME, AND BICKERSTAFF BRAINSTEM ENCEPHALITIS PRESENTING AS CLINICAL BRAIN DEATH, A CASE SERIES

Guillain-Barré Syndrome (GBS), Miller-Fisher Syndrome (MFS), and Bickerstaff Brainstem Encephalitis (BBE) are neuroinflammatory disorders that share common immunopathogenic mechanisms. Although overlapping presentations of these conditions are rare, they pose significant diagnostic challenges, especially when mimicking clinical brain death. Objective: To present a case series of three patients who demonstrated an overlap of GBS, MFS, and BBE, with all patients exhibiting profound neurological impairments, including clinical signs of brain death. Methods: A retrospective review of three cases admitted to the ICU over the last three years was conducted. Detailed clinical profiles, cerebrospinal fluid (CSF) analysis, nerve conduction studies (NCS), and electromyography (EMG) results were reviewed. All patients were treated with intravenous immunoglobulins (IVIG) and therapeutic plasma exchange (TPE). Results: All three patients had a history of preceding infections and were presented with ophthalmoplegia, ataxia, and altered levels of consciousness, progressing to coma. CSF analysis revealed albuminocytological dissociation, and NCS/EMG indicated severe polyneuropathy. Two patients responded positively to IVIG and plasmapheresis, showing significant neurological recovery, while the third patient demonstrated a delayed but spontaneous recovery. All patients eventually achieved full or near-full neurological recovery. Conclusions: This case series highlights the clinical continuum and diagnostic complexity of overlapping GBS, MFS, and BBE, particularly in presentations mimicking brain death. Early recognition and prompt immunomodulatory therapy are crucial in improving patient outcomes, even in cases with severe neurological deficits. Further research is warranted to elucidate pathophysiology and optimize treatment strategies for overlapping neuroinflammatory syndromes.

Antibodies in Autoimmune Neuropathies: What to Test, How to Test, Why to Test.

Autoimmune neuropathies are a heterogeneous group of immune-mediated disorders of the peripheral nerves. Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are the archetypal acute and chronic forms. Over the past few decades, pathogenic antibodies targeting antigens of the peripheral nervous system and driving peripheral nerve damage in selected patients have been described. Moreover, the detection of these antibodies has diagnostic and therapeutic implications that have prompted a modification of the GBS and CIDP diagnostic algorithms. GBS diagnosis is based in clinical criteria, and systematic testing of anti-ganglioside antibodies is not required. Nonetheless, a positive anti-ganglioside antibody test may support the clinical suspicion when diagnosis of GBS (GM1 IgG), Miller Fisher (GQ1b IgG), or acute sensory-ataxic (GD1b IgG) syndromes is uncertain. Anti-myelin-associated glycoprotein (MAG) IgM and anti-disialosyl IgM antibodies are key in the diagnosis of anti-MAG neuropathy and chronic ataxic neuropathy, ophthalmoplegia, M-protein, cold agglutinins, and disialosyl antibodies spectrum neuropathies, respectively, and help differentiating these conditions from CIDP. Recently, the field has been boosted by the discovery of pathogenic antibodies targeting proteins of the node of Ranvier contactin-1, contactin-associated protein 1, and nodal and paranodal isoforms of neurofascin (NF140, NF186, or NF155). These antibodies define subgroups of patients with specific clinical (most importantly poor or partial response to conventional therapies and excellent response to anti-CD20 therapy) and pathologic (node of Ranvier disruption in the absence of inflammation) features that led to the definition of the "autoimmune nodopathy" diagnostic category and to the incorporation of nodal/paranodal antibodies to clinical routine testing. The purpose of this review was to provide a practical vision for the general neurologist of the use of antibodies in the clinical assessment of autoimmune neuropathies.

Overlapping Miller Fisher Syndrome Following Primary Varicella Zoster Infection: A Case Report

Overlapping Miller Fisher Syndrome Following Primary Varicella Zoster Infection: A Case Report

Clinical presentation and symptomatology of Guillain-Barré syndrome: A literature review.

Guillain-Barré Syndrome (GBS) is a rare but potentially life-threatening neurological disorder characterized by acute onset ascending paralysis and sensory abnormalities. This article provides a comprehensive overview of GBS, covering its epidemiology, etiology, clinical presentation, diagnostic evaluation, management and treatment, prognosis, psychosocial impact, recent advances in research, public health implications, and ethical considerations. Epidemiological data reveal variations in GBS prevalence, incidence rates, and geographical distribution influenced by climate, infectious disease prevalence, and genetic susceptibility. Etiological factors include preceding infections, vaccinations, and autoimmune mechanisms, although the precise pathophysiology remains incomplete. Clinical presentation encompasses prodromal symptoms, motor deficits, sensory abnormalities, autonomic dysfunction, and variants such as Miller-Fisher Syndrome and Bickerstaff brainstem encephalitis. Neurological examination findings include weakness, paralysis, sensory deficits, and reflex changes, while autonomic dysfunction manifests as cardiovascular, respiratory, and gastrointestinal symptoms. Diagnostic evaluation relies on clinical criteria, laboratory tests (e.g., cerebrospinal fluid analysis, nerve conduction studies), and consideration of differential diagnoses. Management strategies encompass supportive care, immunomodulatory therapies (e.g., intravenous immunoglobulin, plasma exchange), and rehabilitation interventions to optimize functional outcomes and promote recovery. Prognosis varies depending on clinical features, treatment response, and complications such as respiratory failure and autonomic instability. Psychosocial impact encompasses psychological effects on patients and caregivers, highlighting the importance of coping strategies and support systems. Recent advances in research focus on emerging treatments, genetic predisposition, and biomarker discovery, offering promise for improving GBS outcomes. Public health implications include vaccination safety concerns and healthcare system considerations for GBS management. Ethical considerations encompass patient autonomy, resource allocation, and end-of-life decision-making.

Recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms.

Immune-mediated cerebellar ataxias (IMCAs) represent a group of disorders in which the immune system targets mainly the cerebellum and related structures. We address fundamental questions on the diagnosis and immunological pathogenesis of IMCAs, as illuminated by recent advances in the field. Various types of IMCAs have been identified, including post-infectious cerebellitis, Miller Fisher syndrome, gluten ataxia, paraneoplastic cerebellar degeneration (PCD), opsoclonus and myoclonus syndrome, and anti-GAD ataxia. In some cases, identification of several well-characterized autoantibodies points to a specific etiology in IMCAs and leads to a firm diagnosis. In other cases, various autoantibodies have been reported, but their interpretation requires a careful consideration. Indeed, some autoantibodies have only been documented in a limited number of cases and the causal relationship is not established. In order to facilitate an early treatment and prevent irreversible lesions, new entities have been defined in recent years, such as primary autoimmune cerebellar ataxia (PACA) and latent autoimmune cerebellar ataxia (LACA). PACA is characterized by autoimmune features which do not align with traditional etiologies, while LACA corresponds to a prodromal stage. LACA does not imply the initiation of an immunotherapy but requires a close follow-up. Concurrently, accumulation of clinical data has led to intriguing hypotheses regarding the mechanisms of autoimmunity, such as a pathogenesis of autoimmunity against synapses (synaptopathies), and the vulnerability of the entire nervous system when the immunity targets ion channels and astrocytes. The development of PCD in patients treated with immune-checkpoint inhibitors suggests that molecular mimicry specifically determines the direction of autoimmunity, and that the strength of this response is modulated by co-signaling molecules that either enhance or dampen signals from the antigen-specific T cell receptor.

The spectrum of anti-GQ1B antibody syndrome: beyond Miller Fisher syndrome and Bickerstaff brainstem encephalitis.

Since the initial identification of Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE),significant milestones have been achieved in understanding these diseases.Discoveries of common serum antibodies (IgG anti-GQ1b), antecedent infections, neurophysiological data, andneuroimaging suggested a shared autoimmune pathogenetic mechanism rather than distinct pathogenesis, leadingto the hypothesis that both diseases are part of a unified syndrome, termed "Fisher-Bickerstaff syndrome". The subsequent identification of atypical anti-GQ1b-positive forms expanded the classification to a broader condition known as "Anti-GQ1b-Antibody syndrome". An exhaustive literature review was conducted, analyzing a substantial body of research spanning from the initialdescriptions of the syndrome's components to recent developments in diagnostic classification and researchperspectives. Anti-GQ1b syndrome encompasses a continuous spectrum of conditions defined by a common serological profilewith varying degrees of peripheral (PNS) and central nervous system (CNS) involvement. MFS and BBE represent theopposite ends of this spectrum, with MFS primarily affecting the PNS and BBE predominantly involving the CNS.Recently identified atypical forms, such as acute ophthalmoparesis, acute ataxic neuropathy withoutophthalmoparesis, Guillain-Barré syndrome (GBS) with ophthalmoparesis, MFS-GBS and BBE-GBS overlap syndromes,have broadened this spectrum. This work aims to provide an extensive, detailed, and updated overview of all aspects of the anti-GQ1b syndromewith the intention of serving as a stepping stone for further shaping thereof. Special attention was given to therecently identified atypical forms, underscoring their significance in redefining the boundaries of the syndrome.

Bilateral mydriasis as the first manifestation of Miller Fisher syndrome

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS), characterised by a unique clinical triad of ophthalmoplegia, ataxia, and areflexia. MFS, which was first described in 1956 by Charles Miller Fisher , is frequently preceded by an infection, usually respiratory or gastrointestinal, and is believed to be triggered by an autoimmune reaction targeting peripheral nervous system components. However the MFS is further categorised into incomplete forms which can be present without the classical triad, such as acute ophthalmoparesis, acute ataxic neuropathy, acute ptosis and acute mydriasis. We report a case of a 50-year-old man presenting with dilated and unresponsive pupils, which progressed rapidly to ophthalmoplegia, ataxia, and areflexia. Given the clinical history supported by the cyto-protein dissociation in cerebrospinal fluid, the patient was diagnosed to have MFS and successfully treated with intravenous immunoglobulin. This case underscores the importance of recognising atypical features of MFS, such as primary mydriasis, and highlights the variable clinical spectrum within the syndrome. Clinicians should maintain a high index of suspicion for MFS, particularly when faced with unusual neurological presentations, to ensure timely intervention and optimal patient outcomes.

Miller–Fisher syndrome – A diagnostic conundrum – A case report and review of literature

Miller–Fisher syndrome is a rare subvariant of Guillian–Barre syndrome, presenting with ophthalmoplegia, ataxia, and areflexia. We present a 37-year-old male with progressive bilateral external ophthalmoplegia with moderate left-eye ptosis. He developed myalgia, ataxia, and absent deep tendon reflexes. He was initially treated with thiamine infusion and pyridostigmine because of possible Wernicke’s encephalopathy or myasthenia with no improvement. Lumbar puncture revealed acellular smear with high protein. He was switched to IV immunoglobulin therapy proceeding which he showed improvement. We present this case due to its unusual nature and complex diagnostic conundrum.

Neurological Complications of COVID-19 Infection: A Comprehensive Review.

The COVID-19 pandemic is well on its way to reaching endemic status across the globe. While the medical community's understanding of the respiratory complications induced by COVID-19 is improving, there is still much to be learned about the neurological manifestations associated with COVID-19 infection. This review aimed to compile relevant, available evidence of COVID-19-induced neurological complications and to provide information for each complication regarding symptomology, progression patterns, demographic risk factors, treatment, and causative mechanism of action when available. Data for this review was collected using a confined search on PubMed using the keywords ["COVID-19" OR "SARS-CoV-2"] AND ["neurological complications" OR "olfactory symptoms" OR "gustatory symptoms" OR "myalgia" OR "headache" OR "dizziness" OR "stroke" OR "seizures" OR "meningoencephalitis" OR "cerebellar ataxia" OR "acute myelitis" OR "Guillain Barré Syndrome" OR "Miller Fisher Syndrome" OR "Posterior Reversible Encephalopathy Syndrome"] between 2019 and 2023. A wide range of neurological manifestations impact a significant percentage of COVID-19 patients, and a deeper understanding of these manifestations is necessary to ensure adequate management. The most common neurological complications identified consist of olfactory and gustatory dysfunctions, myalgia, headache, and dizziness, while the most severe complications include stroke, seizures, meningoencephalitis, Guillain-Barré syndrome, Miller Fisher syndrome, acute myelitis, and posterior reversible encephalopathy syndrome. While this review effectively provides a roadmap of the neurological risks posed to COVID-19 patients, further research is needed to clarify the precise incidence of these complications and to elucidate the mechanisms responsible for their manifestation.

A Case Report of Miller Fisher Syndrome with Bilateral Facial Palsy Using Complex Korean Medicine Treatment Including Facial Chuna Manual Therapy

A Case Report of Miller Fisher Syndrome with Bilateral Facial Palsy Using Complex Korean Medicine Treatment Including Facial Chuna Manual Therapy

Miller Fisher Syndrome mimicking botulism: a case report of Guillain-Barré/Miller Fisher overlap syndrome caused by COVID-19 and EBV coinfection

Miller Fisher Syndrome mimicking botulism: a case report of Guillain-Barré/Miller Fisher overlap syndrome caused by COVID-19 and EBV coinfection

When Guillain–Barré Syndrome Defies Expectations: A Case of Atypical Features

Abstract Guillain–Barré syndrome (GBS) is one of the most common causes of acute flaccid paralysis. In typical GBS, there are no central nervous system (CNS) features. GBS with prominent CNS involvement can be seen in uncommon variants of GBS (such as Miller Fisher Syndrome and Bickerstaff brainstem encephalitis [BBE]) or rarely, when it coexists with other conditions such as acute disseminated encephalomyelitis (ADEM). We report a case of a 35-year-old male who presented with fever followed by ascending lower motor neuron type paraparesis suggestive of GBS which progressed rapidly to involve the respiratory muscles necessitating invasive mechanical ventilation. The patient had many atypical features, namely, persistent fever, early bladder and bowel involvement, facial twitching, ophthalmoplegia with ptosis, and a comatose state. Based on these clinical features and the investigations done, a diagnosis of GBS with BBE with a possibility of ADEM was made. The patient was managed intensively, but there was no improvement in the neurological manifestations and the patient succumbed to the illness due to ventilator-associated complications.

Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.

In this retrospective study, we aimed at defining the clinical, paraclinical and outcome features of acute neurological syndromes associated with anti-GQ1b antibodies. We identified 166 patients with neurological symptoms appearing in less than 1month and anti-GQ1b antibodies in serum between 2012 and 2022. Half were female (51%), mean age was 50years (4-90), and the most frequent clinical features were areflexia (80% of patients), distal upper and lower limbs sensory symptoms (78%), ophthalmoplegia (68%), sensory ataxia (67%), limb muscle weakness (45%) and bulbar weakness (45%). Fifty-three patients (32%) presented with complete (21%) and incomplete (11%) Miller Fisher syndrome (MFS), thirty-six (22%) with Guillain-Barre syndrome (GBS), one (0.6%) with Bickerstaff encephalitis (BE), and seventy-three (44%) with mixed MFS, GBS & BE clinical features. Nerve conduction studies were normal in 46% of cases, showed demyelination in 28%, and axonal loss in 23%. Anti-GT1a antibodies were found in 56% of cases, increased cerebrospinal fluid protein content in 24%, and Campylobacter jejuni infection in 7%. Most patients (83%) were treated with intravenous immunoglobulins, and neurological recovery was complete in 69% of cases at 1year follow-up. One patient died, and 15% of patients relapsed. Age > 70years, initial Intensive Care Unit (ICU) admission, and absent anti-GQ1b IgG antibodies were predictors of incomplete recovery at 12months. No predictors of relapse were identified. This study from Western Europe shows acute anti-GQ1b antibody syndrome presents with a large clinical phenotype, a good outcome in 2/3 of cases, and frequent relapses.