Opsoclonus-myoclonus Syndrome Research Articles

Neuroblastoma-related severe hypoperfusion in the cerebellum of an infant: A case of opsoclonus-myoclonus syndrome.

A 2-year-old girl started to wobble without any specific triggers, so the patient was admitted to our hospital's pediatric department. The entire cerebellum showed severe atrophy on MRI and much lower uptake than that in the cerebral cortex on perfusion SPECT. The diagnosis of opsoclonus-myoclonus syndrome (OMS) was suspected. MRI visualized a small mass behind the inferior vena cava. Although its uptake on I-123 MIBG scintigraphy was inconclusive, the mass was surgically removed, and the diagnosis of neuroblastoma was pathologically confirmed. OMS is one of the paraneoplastic neurological syndromes with cerebellar ataxia, myoclonus of the trunk and extremities, and opsoclonus as its main symptoms. Approximately 50% of children cases with OMS are associated with neuroblastoma. The prognosis for neuroblastoma itself with OMS is relatively good, but the neurological prognosis is very poor. If there is decreased blood flow in the cerebellum of an infant, it may be necessary to search for neuroblastoma.

Adult-onset idiopathic opsoclonus-myoclonus syndrome.

Opsoclonus-myoclonus syndrome is extremely uncommon in adults with an autoimmune pathophysiology. Because of the rarity of the syndrome, international recognition of opsoclonus-myoclonus-ataxia syndrome needs to be improved urgently. Therefore, the goal of this study was to raise the awareness of the opsoclonus-myoclonus-ataxia syndrome and help doctors in better diagnosing and using immunotherapy. We present a case study of an adult-onset case of idiopathic opsoclonus-myoclonus syndrome characterized by spontaneous arrhythmic multidirectional conjugate eye movements, myoclonus, ataxia, sleep disorders, and intense fear. Additionally, we conduct a literature search and summarize the pathophysiology, clinical presentation, diagnosis, and treatment of opsoclonus-myoclonus-ataxia syndrome. Immunotherapies successfully treated the patient's opsoclonus, myoclonus, and ataxia. Further, the article also includes an update summary of the opsoclonus-myoclonus-ataxia syndrome. The prevalence of residual sequela in adults with opsoclonus-myoclonus-ataxia syndrome is low. Early diagnosis and treatment may result in a better prognosis. Furthermore, combined immunotherapy is expected to reduce the incidence of refractory and reoccurring opsoclonus-myoclonus-ataxia syndrome.

Síndrome opsoclonus-mioclonus-ataxia: relato de caso

Opsoclonus-myoclonus-ataxia syndrome (AOM), also known as Kinsbourne syndrome, is a rare neurological disease in childhood, clinically characterized by rapid, irregular and multidirectional eye movements, myoclonic movements in the trunk, face and / or extremities and ataxia. Irritability and disturbances in the sleep cycle can be observed. There are idiopathic cases that have been correlated with viral infections or with the presence of neuroblastoma. As the diagnosis is clinical and there is great variability and heterogeneity in the presentation of cases, an individualized therapeutic approach is considered the best option. This article aims to present the case of an infant, diagnosed with AOM syndrome after a prodromal episode of viral infection of the upper airways. To rule out the presence of an associated hidden neuroblastoma, imaging exams, a study of cerebrospinal fluid and measurement of vanillmandelic acid were performed. The immunological treatment has proven to be effective and consisted of the administration of corticosteroids, intravenous immunoglobulin and monoclonal antibody rituximab.

Neuroblastoma with opsoclonus myoclonus ataxia syndrome - Case series from tertiary care center

Neuroblastoma with opsoclonus myoclonus ataxia syndrome - Case series from tertiary care center

Metabolic Opsoclonus Myoclonus Syndrome in a Patient of Crohn's Disease: Lessons Learnt.

Metabolic Opsoclonus Myoclonus Syndrome in a Patient of Crohn's Disease: Lessons Learnt.

Opsoclonus-myoclonus syndrome associated with pancreatic neuroendocrine tumor: a case report

BackgroundOpsoclonus-myoclonus syndrome (OMS) is a rare, immune-mediated neurological disorder. In adults, the pathogenesis can be idiopathic, post-infectious or paraneoplastic, the latter etiology belonging to the ever-expanding group of defined paraneoplastic neurological syndromes (PNS). In contrast to other phenotypes of PNS, OMS cannot be ascribed to a single pathogenic autoantibody. Here, we report the first detailed case of paraneoplastic, antibody-negative OMS occurring in association with a pancreatic neuroendocrine tumor (pNET).Case presentationA 33-year-old female presented with a two-week history of severe ataxia of stance and gait, dysarthria, head tremor, myoclonus of the extremities and opsoclonus. Her past medical history was notable for a metastatic pancreatic neuroendocrine tumor, and she was subsequently diagnosed with paraneoplastic opsoclonus-myoclonus syndrome. Further workup did not reveal a paraneoplastic autoantibody. She responded well to plasmapheresis, as she was refractory to the first-line therapy with corticosteroids.ConclusionsThis case expands current knowledge on tumors associated with paraneoplastic opsoclonus-myoclonus syndrome and the age group in which it can occur. It further adds evidence to the effectiveness of plasmapheresis in severe cases of opsoclonus-myoclonus syndrome with a lack of response to first-line therapy.

Etiological Factors of Opsoclonus Myoclonus Ataxia Syndrome: A Single Center Experience with Eight Children

Objective: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neurological disorder characterized by acute/subacute onset multi-directional chaotic eye movements, accompanied by myoclonus and cerebellar ataxia; as well as sleep disturbance, cognitive dysfunction, and behavioral disturbance can be observed. Methods: We examined the information of eight patients (four females, four males) who applied to the hospital with OMAS between 2013 and 2020 from the medical records of the patients. Results: The median age of onset of the initial symptoms was 17.5 months (8-30 months). The most common initial complaints were abnormal eye movement and gait unsteadiness, respectively. Paraneoplastic OMAS was observed in three patients (37.5%), whereas idiopathic and infection-related OMAS was detected in three, and two patients, respectively. Conclusion: We emphasize that all symptoms of OMAS may not occur simultaneously, therefore comprehensive systemic investigations, and close observation should be made in patients with suspected OMAS.

Opsoclonus Myoclonus Syndrome and Supraventricular Tachycardia in a Pediatric Patient: A Case Report and Literature Review

Objective NA. Background Opsoclonus myoclonus syndrome (OMS) is a rare movement disorder in children often associated with an underlying neuroblastoma. In other cases, it is believed that the tumor is occult or there is another immune-stimulating precipitating event. Diagnosis can be difficult, requiring 3 of 4 criteria: opsoclonus or ocular flutter, myoclonus or ataxia, behavioral or sleep disturbances, and neuroblastoma. Prompt treatment of OMS is crucial to preventing permanent neurologic sequelae. In order to better characterize the clinical profile of this syndrome and its associated conditions, we present a case report of a 9 month old male with OMAS without an associated neuroblastoma and with new onset supraventricular tachycardia (SVT) and review the associated literature. Design/Methods NA. Results A 9-month-old male with a past medical history of macrocephaly, hypotonia, and developmental delay presented with abnormal eye and body movements starting one month prior. Due to concern for OMS, the patient underwent an extensive initial workup including CT neck, chest, abdomen, and pelvis and VHA/HMA levels, which were all within normal limits. The patient's spinal fluid revealed no evidence of paraneoplastic, autoimmune, or infectious processes. Per neurology recommendations, the patient was started on IVIG and dexamethasone. After his first IVIG infusion, the patient's abnormal movements worsened, and his heart rate increased into the 300s. The IVIG was discontinued. However, the patient continued to have recurring bouts of SVT, which was eventually controlled with digoxin. After resuming treatment with IVIG and dexamethasone, the patient's opsoclonus myoclonus symptoms began to improve. All additional metabolic labs resulted normal and the patient was discharged. Conclusions Because OMS can cause permanent developmental delay, prompt recognition and treatment of this syndrome is necessary. This is a unique case of OMAS without neuroblastoma, associated with recurrent bouts of SVT. Recognizing rare complications of OMS is crucial to improving medical management of its sequelae.

Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome.

Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder. We aimed to retrospectively evaluate clinical and laboratory data and outcomes of 23 children diagnosed with OMAS in two children's hospitals between 2010 and 2021. There were 14 boys and 9 girls aged 4-113 months, median 24 months. Ten (43.5%) children had paraneoplastic causes: neuroblastoma/ganglioneuroblastoma (n=9), acute lymphoblastic leukemia (n=1). Three children had a postinfectious cause (upper respiratory tract infection in 2, EBV infection in 1) and two had a history of vaccination (varicella in 1, hepatitis A and meningococcal in 1). No underlying factor was identified in 8 (34.8%) children. Speech disorders were more frequent in patients with neural tumors than in those without (p=0.017). Intravenous immunoglobulin and steroids were effective as initial treatment in most children. Rituximab resulted in at least mild improvement in all 6 children with persistent or recurrent symptoms. Nine (39%) children experienced at least one relapse. Neurological sequelae were detected in 13 (57%) children. There was no significant correlation between clinical characteristics and outcome, except for higher risk of relapse in case of incomplete recovery after first attack (p=0.001). Acute lymphoblastic leukemia, vaccines against hepatitis A and meningococci can be included among antecedent factors in OMAS. Among clinical symptoms, speech problems might point to the likelihood of an underlying neoplasm in OMAS. Intravenous immunoglobulin and steroids may be chosen for initial treatment while rituximab can increase the chance of recovery in case of persistent or recurrent symptoms. The presence of relapse was associated with poor outcome.

Comparison of mediastinal and non-mediastinal neuroblastoma and ganglioneuroblastoma associated with opsoclonus-myoclonus syndrome: a systematic review and meta-analysis.

Neuroblastoma is the most common malignancy in children younger than seven years of age and is the most frequent extracranial solid tumor that occurs in childhood. While opsoclonus-myoclonus syndrome (OMS), a paraneoplastic neurologic syndrome, affects 2-3% of children with neuroblastoma, and the percentage of mediastinal localization of the tumor is 49%. The objective of this study was to identify and characterize features of the OMS syndrome and treatments of mediastinal and non-mediastinal neuroblastoma associated with OMS. A systematic review of the literature was performed using PubMed, Medline, Web of Science, Embase and Cochrane. The search has no limit on date with the last search done on Dec 31, 2020. There is no publication restrictions or study design filters applied in the search. Fifty-five out of 242 papers were identified and met our study eligibility. There were 77 cases found (28 cases had Mediastinal neuroblastoma, and 49 cases had non-mediastinal neuroblastoma). Data from trials showed that cases with mediastinal neuroblastoma who seemed to have undergone less treatment for OMS [rate ratio (RR) 0.41 (95% CI: 0.22-0.76)] had resulted in decreasing persistent neurologic symptoms [RR 0.31 (95% CI: 0.10-0.96)]. Children who have OMS and mediastinal neuroblastoma may be associated with more favorable clinical and biological characteristics and better outcomes than children who have OMS and non-mediastinal neuroblastoma, and they are more likely to present with a single neurological symptom at first. The OMS in mediastinal neuroblastoma might also be treated effectively through resection of the tumor followed by appropriate radiotherapy and chemotherapy, and no long-term treatments of OMS is indicated.

Opsoclonus-Myoclonus Syndrome Possibly Associated With Mumps Infection

Opsoclonus-myoclonus syndrome (OMS) is an infrequent yet serious neurologic entity related to neoplastic, infectious, toxic, and metabolic diseases. In recent years, OMS associated with multiple infections have been reported. In contrast to neoplastic and autoimmune etiologies, OMS from infectious diseases occurs in younger patients and has a favorable outcome. Though the data are limited, the use of corticosteroids and immunotherapy remain the treatments of choice for the management of OMS symptoms. We present a patient case of OMS possibility associated with mumps virus in an immunocompetent young adult who was successfully treated with steroids.

Opsoclonus-myoclonus syndrome associated with neuroblastoma: Insights into antitumor immunity.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder. Half of these cases occur in children with neuroblastoma. Neuroblastoma patients with OMS usually have better oncological outcomes than those without OMS even after stratification by tumor stage and age, indicating that factors mediating OMS may also inhibit tumor cell proliferation. Although the mechanisms underlying OMS remain undefined, the cytokines and lymphocytes alterations in the cerebrospinal fluid support the concept that it is a pattern of neuroinflammation due to an autoimmune effect. The presence of lymphoid follicles consisting of follicular dendritic cells, CD20+ B lymphocytes, CD3+ T lymphocytes, and CD68+ macrophages in the tumor microenvironment in OMS-associated neuroblastoma support the autoimmune nature of this disorder. This review focuses on the clinical and genetic features of OMS-associated neuroblastoma, and we update readers on immune features of neuroblastoma with or without OMS to gain insights into antitumor immunity as it relates to tumor biology and prognosis.

Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the literature.

Dancing eye syndrome or opsoclonus-myoclonus syndrome (OMS) is a very rare disease (incidence <1/5,000,000 per year), which is more prevalent in young children. Although it is not usually a cause of mortality, the aftermaths are not rare. We performed an observational retrospective review of children diagnosed with OMS in our neuropediatric department from 1996 to 2020, with the objective of assessing the prognostic value of initial clinical features. All medical data from diagnosis to last follow-up were reviewed. We defined unfavorable evolution of OMS as persistence or worsening of symptoms. Subsequently, based on a literature review, our results and experience, a diagnostic algorithm was developed. A total of 13 OMS patients were included: 61.5% were male (n=8), median age at diagnosis was 18 months (IR=76), median treatment delay was 14 days (IR=146) and OMS score at onset was 8 (IR=11). The most frequent etiologies were neuroblastoma-associated and idiopathic OMS (38.46%; n=5) of the patients, followed by post-infectious OMS (n=3). All the patients were treated with corticosteroids, five required a surgical intervention (neuroblastoma group), and three required adjunctive immune therapy (immunoglobulins, cyclophosphamide and/or rituximab). We detected neurodevelopmental disorders in 38.46% (n=5) of the patients, mainly attention deficit (n=4), and persistent sleep disturbances (n=4). The median OMS score at the end of follow-up was 1 (IR=3). An important diagnostic delay, OMS score of ≥10 and age >1 year at onset may correlate with a higher risk of aftermaths. We detected a better prognosis in the post-infectious OMS, with full recovery occurring in 2/3 of patients. Early clinical suspicion is key to guarantee maximum response of treatment.

Opsoclonus Myoclonus Ataxia Syndrome in a HIV Patient as a rare presentation of CSF escape: A Case Report

Cerebrospinal fluid escape is an uncommon phenomenon seen in patients where there is discordance in plasma and cerebrospinal fluid viral load. The presentation of this condition can range from being asymptomatic to the patient showing cognitive dysfunction. In addition, it can also be associated with various opportunistic neurological infections. Opsoclonus Myoclonus Ataxia is very rare entity classically associated with neuroblastoma or viral illness. Opsoclonus Myoclonus Ataxia Syndrome (OMAS) has previously been described as a presentation of Human Immunodeficiency Virus cerebrospinal fluid escape very rarely. We report a case of 55 years old patient diagnosed with HIV/AIDS, who was on first line antiretroviral therapy and presented with Opsoclonus Myoclonus Ataxia Syndrome associated with Cerebral Fluid (CSF) Escape, along with the review of the literature. Moreover, in this article, we're providing a postulation for the plausible cause behind cerebrospinal fluid escape leading to the Opsoclonus Myoclonus Ataxia Syndrome. Keywords: HIV/AIDS, CSF Escape, Opsoclonus Myoclonus Ataxia Syndrome.

Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges.

The cerebellum is particularly enriched in antigens and represents a vulnerable target to immune attacks. Immune-mediated cerebellar ataxias (IMCAs) have diverse etiologies, such as gluten ataxia (GA), post-infectious cerebellitis (PIC), Miller Fisher syndrome (MFS), paraneoplastic cerebellar degeneration (PCD), opsoclonus myoclonus syndrome (OMS), and anti-GAD ataxia. Apart from these well-established entities, cerebellar ataxia (CA) occurs also in association with autoimmunity against ion channels and related proteins, synaptic adhesion/organizing proteins, transmitter receptors, glial cells, as well as the brainstem antigens. Most of these conditions manifest diverse neurological clinical features, with CAs being one of the main clinical phenotypes. The term primary autoimmune cerebellar ataxia (PACA) refers to ataxic conditions suspected to be autoimmune even in the absence of specific well-characterized pathogenic antibody markers. We review advances in the field of IMCAs and propose a clinical approach for the understanding and diagnosis of IMCAs, focusing on rare etiologies which are likely underdiagnosed. The frontiers of PACA are discussed. The identification of rare immune ataxias is of importance since they are potentially treatable and may lead to a severe clinical syndrome in absence of early therapy.

A-165 Selective Mutism in Pediatric Opsoclonus-Myoclonus Syndrome: A Case Study

Abstract Objective: Opsoclonus-Myoclonus Syndrome (OMS) is an extremely rare (1 per 5 million estimated incidence), subacute movement disorder characterized by myoclonus and/or ataxia, opsoclonus, and behavioral disturbance with or without neuroblastoma. Many pediatric patients will experience long-term cognitive, behavioral, and motor sequelae. This case study describes deficits associated with a rare course of OMS and will present a poly-etiologic hypothesis for the observed profile. Improved understanding of the phenotypic variance in atypical OMS may promote diagnostic clarity and subsequent intervention for a rare presentation that is scientifically underserved. Method: Patient presented with viral infection at 2 years of age that led to loss of motor and speech functioning and ultimately a diagnosis of OMS. Patient exhibited typical features of cerebellar mutism syndrome (mutism, emotional lability, motor impairment), with rapid recovery of gross motor skills. Patient’s mutism has persisted for several years despite immunomodulatory treatment and normal neuroimaging findings. Results: Neuropsychological results indicated below average performance across intellectual, language, motoric, and academic domains. Functional and adaptive impairments secondary to social anxiety and separation distress were also exhibited. Diagnostic criteria for Selective Mutism and Social Anxiety Disorder were met. Significant anxiety, post-event stress, attachment needs, altered speech/language development, and personal temperament are all probable contributors to her prolonged mutism. Conclusions: This case study examines OMS with prolonged mutism. Mutism, while not uncommon in some cerebellar disorders or post surgically, is not well documented in the OMS literature and may represent a rare outcome. These findings add to the phenotypic variability, developmental course, and profile of atypical cerebellar presentations.

A-2 Neuropsychological and Neuropsychiatric Symptoms Following Hypertrophic Olivary Degeneration

Abstract Objective: Hypertrophic Olivary Degeneration (HOD) is a rare neurological condition causing hypertrophy and eventual degeneration of the inferior olivary nucleus via transneuronal degeneration in the dentato-rubro-olivary pathway (DROP), or Guillain–Mollaret triangle. HOD is considered unique because the olive initially becomes hypertrophic rather than atrophic. Etiology is often cerebral vascular insult, cavernous malformation, surgical resection, and neurological disease, albeit cause may be unclear. While the neurologic and imaging findings have been well delineated in the literature, few studies investigate the neuropsychological impact. Methods: With consent, a review of the medical chart was conducted of a 39-year-old female with hypertension referred for assessment due to progressive cognitive, motor, and psychiatric symptoms. Results: Physical symptoms included progressive limb and trunk ataxia, palatal tremor, and opsoclonus myoclonus that plateaued within 4 years. Initial Magnetic Resonance Imaging (MRI) revealed bilateral, nonenhancing hyperintensity of the pontomedullary junction and enlargement of the inferior olive. Subsequent MRI displayed cerebellar atrophy. Cognitive assessment documented significant executive, language, spatial and fine motor dexterity deficits, alongside depression, anxiety, emotional blunting, and passive suicidality. She reported believing her neighbors were listening and following her in public. She remained semi-independent in daily living. Conclusions: This is the first case study that captures the neurocognitive profile associated with HOD and associated degeneration of DROP. This case highlights the potential for Cognitive Cerebellar Affective Syndrome (CCAS) to arise from damage to adjacent cerebellar pathways via transneuronal degeneration of brainstem circuits. It also provides evidence for the presence of delusions within CCAS as dysmetria of thought.

Opsoclonus-myoclonus Syndrome with Neuroblastoma in Children and their Anaesthetic Management.

Opsoclonus-myoclonus syndrome (OMS) or the dancing eye syndrome, is a rare inflammatory neurological disorder often with paraneoplastic aetiology. It has an incidence of 1 in 1000,000 population worldwide. Opsoclonus-myoclonus syndrome is associated with 2-3% of patients having neuroblastoma. The authors present 5 cases of OMS in children who had neuroblastoma and underwent surgical resection. The median age was 26 (14-36) months. Male: female ratio was 1:1.5. All the patients had moderate to severe symptoms. Duration of symptoms at presentation varied from 3 days to one and half years. The possibility of OMS should be considered in all children presenting with probable neurological symptoms. Pharmacological therapy combined with surgery results in a good outcome. Balanced anaesthesia with the most commonly used drugs can be safely administered in the patients with opsoclonus-myoclonus syndrome. Key Words: Opsoclonus, Myoclonus, Neuroblastoma, Child, Anaesthesia.

WITHDRAWN: Combined Neuraxial-General Anesthesia in Opsoclonus-Myoclonus Syndrome: A Case Report

Opsoclonus-myoclonus syndrome (OMS) is a very rare neurological disorder thought to be the result of autoimmune responses in the nervous system. The relationship between this disorder and anesthesia procedures has not been studied in detail. To our knowledge, there are only 4 case reports, none of them with epidural-general combined anesthesia. We present a 9-year-old female with OMS due to low-grade neuroblastoma, for 7 years, who underwent tumor remotion due to the large size. Intravenous induction was done with alfentanil, lidocaine, propofol and rocuronium and ropivacaine was administered via lumbar epidural catheter. Adding to the sparse anesthetic management information in OMS, we now show one more possible approach, that can be a valuable in high-risk cases, where general anesthesia can be involved with higher risk for the patient.

Idiopathic opsoclonus myoclonus syndrome: Case report in a 13-month-old female patient

El síndrome de opsoclonia mioclonía es una entidad neurológica poco frecuente que afecta a los niños en la etapa preescolar. Clínicamente se caracteriza por una triada clásica de opsoclonía, mioclonía y ataxia aguda, con una evolución progresiva o incluso de manera incompleta. Su etiología puede ser paraneoplásica, en la mayoría de los casos en asociación con neuroblastomas, así como postinfecciosa o parainfecciosa, autoinmune o idiopática. En objetivo del tratamiento es la inmunomodulación con terapia de primera línea con esteroides endovenosos aunque pudiendo asociarse a recaídas y secuelas a largo plazo en el ámbito neurológico y conductual. El síndrome de opsoclonia mioclonía representa un reto diagnóstico en los pacientes con ataxia aguda dada la variedad de presentación clínica, por tanto es importante tener una alta sospecha diagnostica para garantizar un tratamiento oportuno y evitar secuelas futuras.