Opsoclonus myoclonus syndrome: Difference between revisions
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{{CMG}} {{AE}} {{Jose}} | {{CMG}} {{AE}} {{Jose}} | ||
{{SK}} | {{SK}}dancing eyes-dancing feet, dancing eye syndrome, Kinsbourne syndrome, myoclonic encephalopathy (Kinsbourne type), OMAS (opsoclonus-myoclonus-ataxia syndrome), OMS (opsoclonus myoclonus syndrome), opsoclonic encephalopathy | ||
==Overview== | ==Overview== | ||
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*There are no primary preventive measures available for opsoclonus myoclonus syndrome. | *There are no primary preventive measures available for opsoclonus myoclonus syndrome. | ||
==Overview== | |||
==Historical Perspective== | |||
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event]. | |||
The association between [important risk factor/cause] and [disease name] was made in/during [year/event]. | |||
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name]. | |||
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name]. | |||
There have been several outbreaks of [disease name], including -----. | |||
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name]. | |||
==Classification== | |||
There is no established system for the classification of [disease name]. | |||
OR | |||
[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4]. | |||
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[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. | |||
[Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3]. | |||
OR | |||
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic. | |||
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If the staging system involves specific and characteristic findings and features: | |||
According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2]. | |||
OR | |||
The staging of [malignancy name] is based on the [staging system]. | |||
OR | |||
There is no established system for the staging of [malignancy name]. | |||
==Pathophysiology== | |||
The exact pathogenesis of [disease name] is not fully understood. | |||
OR | |||
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3]. | |||
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[Pathogen name] is usually transmitted via the [transmission route] route to the human host. | |||
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Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell. | |||
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[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells]. | |||
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The progression to [disease name] usually involves the [molecular pathway]. | |||
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The pathophysiology of [disease/malignancy] depends on the histological subtype. | |||
==Causes== | |||
Disease name] may be caused by [cause1], [cause2], or [cause3]. | |||
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Common causes of [disease] include [cause1], [cause2], and [cause3]. | |||
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The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4]. | |||
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The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]]. | |||
==Differentiating ((Page name)) from other Diseases== | |||
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3]. | |||
OR | |||
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3]. | |||
==Epidemiology and Demographics== | |||
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide. | |||
OR | |||
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide. | |||
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In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%. | |||
Patients of all age groups may develop [disease name]. | |||
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The incidence of [disease name] increases with age; the median age at diagnosis is [#] years. | |||
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[Disease name] commonly affects individuals younger than/older than [number of years] years of age. | |||
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[Chronic disease name] is usually first diagnosed among [age group]. | |||
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[Acute disease name] commonly affects [age group]. | |||
There is no racial predilection to [disease name]. | |||
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[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name]. | |||
[Disease name] affects men and women equally. | |||
OR | |||
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1. | |||
The majority of [disease name] cases are reported in [geographical region]. | |||
OR | |||
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2]. | |||
==Risk Factors== | |||
There are no established risk factors for [disease name]. | |||
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The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4]. | |||
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Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4]. | |||
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Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral. | |||
==Screening== | |||
There is insufficient evidence to recommend routine screening for [disease/malignancy]. | |||
OR | |||
According to the [guideline name], screening for [disease name] is not recommended. | |||
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According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3]. | |||
==Natural History, Complications, and Prognosis== | |||
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3]. | |||
OR | |||
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3]. | |||
OR | |||
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. | |||
==Diagnosis== | |||
===Diagnostic Study of Choice=== | |||
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4]. | |||
OR | |||
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3]. | |||
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The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3]. | |||
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There are no established criteria for the diagnosis of [disease name]. | |||
===History and Symptoms=== | |||
The majority of patients with [disease name] are asymptomatic. | |||
OR | |||
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. | |||
===Physical Examination=== | |||
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
The presence of [finding(s)] on physical examination is diagnostic of [disease name]. | |||
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The presence of [finding(s)] on physical examination is highly suggestive of [disease name]. | |||
===Laboratory Findings=== | |||
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name]. | |||
OR | |||
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3]. | |||
OR | |||
[Test] is usually normal among patients with [disease name]. | |||
OR | |||
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication]. | |||
OR | |||
There are no diagnostic laboratory findings associated with [disease name]. | |||
===Electrocardiogram=== | |||
There are no ECG findings associated with [disease name]. | |||
OR | |||
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
===X-ray=== | |||
There are no x-ray findings associated with [disease name]. | |||
OR | |||
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3]. | |||
===Echocardiography or Ultrasound=== | |||
There are no echocardiography/ultrasound findings associated with [disease name]. | |||
OR | |||
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3]. | |||
===CT scan=== | |||
There are no CT scan findings associated with [disease name]. | |||
OR | |||
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3]. | |||
===MRI=== | |||
There are no MRI findings associated with [disease name]. | |||
OR | |||
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3]. | |||
===Other Imaging Findings=== | |||
There are no other imaging findings associated with [disease name]. | |||
OR | |||
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
===Other Diagnostic Studies=== | |||
There are no other diagnostic studies associated with [disease name]. | |||
OR | |||
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. | |||
OR | |||
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3]. | |||
==Treatment== | |||
===Medical Therapy=== | |||
There is no treatment for [disease name]; the mainstay of therapy is supportive care. | |||
OR | |||
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3]. | |||
OR | |||
The majority of cases of [disease name] are self-limited and require only supportive care. | |||
OR | |||
[Disease name] is a medical emergency and requires prompt treatment. | |||
OR | |||
The mainstay of treatment for [disease name] is [therapy]. | |||
OR | |||
The optimal therapy for [malignancy name] depends on the stage at diagnosis. | |||
OR | |||
[Therapy] is recommended among all patients who develop [disease name]. | |||
OR | |||
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3]. | |||
OR | |||
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3]. | |||
OR | |||
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2]. | |||
OR | |||
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2]. | |||
===Surgery=== | |||
Surgical intervention is not recommended for the management of [disease name]. | |||
OR | |||
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3] | |||
OR | |||
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3]. | |||
OR | |||
The feasibility of surgery depends on the stage of [malignancy] at diagnosis. | |||
OR | |||
Surgery is the mainstay of treatment for [disease or malignancy]. | |||
===Primary Prevention=== | |||
There are no established measures for the primary prevention of [disease name]. | |||
OR | |||
There are no available vaccines against [disease name]. | |||
OR | |||
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3]. | |||
OR | |||
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3]. | |||
===Secondary Prevention=== | |||
There are no established measures for the secondary prevention of [disease name]. | |||
OR | |||
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3]. | |||
==References== | ==References== |
Revision as of 01:14, 8 July 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]
Synonyms and keywords:dancing eyes-dancing feet, dancing eye syndrome, Kinsbourne syndrome, myoclonic encephalopathy (Kinsbourne type), OMAS (opsoclonus-myoclonus-ataxia syndrome), OMS (opsoclonus myoclonus syndrome), opsoclonic encephalopathy
Overview
Opsoclonus myoclonus syndrome (OMS) is a rare neurological disorder, which can be very heterogenous, presenting itself with many different symptoms such as opsoclonus and/or myoclonus - which name the syndrome, but also ataxia, behavioral and/or sleep disturbances. It is believed to be caused by an immune system dysfunction, either induced by infection or paraneoplastic etiologies.
Historical Perspective
- Opsoclonus myoclonus syndrome was first described in 1962 by M. Kinsbourne, who presented a series of six cases of children with ataxia, myoclonus and opsoclonus.
- The syndrome was named as "myoclonic encephalopathy", but has also been called as "dancing eye syndrome".[1] Recently it has been more often referred to as opsoclonus myoclonus syndrome.
Classification
- There is no established system for the classification of opsoclonus myoclonus syndrome.
Pathophysiology
- The pathogenesis of opsoclonus myoclonus syndrome is characterized by neuroinflammation involving dysregulated B cells. It is believed that loss of tolerance and autoantibody production causes the neurological damage seen in the disease.
- Cerebrospinal fluid studies have shown B cell recruitment to the brain via CXCL13/CXCR5 and CXCL10/ CXCR3 ligand/receptor pairs[2]. The B cell activating factor plays a role increasing B cell survivability and there may be seen intrathecal production of oligoclonal bands.[3]
- There are two theories about the cause of the disease:
- Dysfunction of the Purkinje cells in the cerebellar vermis leading to disinhibition of the oculomotor neurons of the fastigial nucleus of the cerebellum.
- Disinhibition of burst neurons, which are mostly under inhibition from omnipause cells, causing saccadic eye movements.[4]
- It is not known if the triggers that causes opsoclonus myoclonus syndrome and those that causes relapses of the disease are the same or if they affect the same region of the brain.[3]
- There is no obvious gene/mutation associated with the development of opsoclonus myoclonus syndrome.[4]
- On microscopic histopathological analysis, gliosis and inflammation in the cerebellar vermis are characteristic findings of opsoclonus myoclonus syndrome.[4]
Clinical Features
- Opsoclonus myoclonus syndrome (also often called: “dancing eyes-dancing feet” syndrome) is a rare syndrome of unknown etiology that presents with the following features:[4]
- Opsoclonus,
- Myoclonic jerks,
- Behavioral disturbances
- Ataxia.
- The cause is not yet known but the accepted hypothesis is that it is an autoimmune, inflammatory reaction which damages the central nervous system. It is theorized that I can be triggered by either a paraneoplastic (being associated with neuroblastoma in children) or an infectious etiology.[4]
- In children it is associated neuroblastoma in approximately half of cases.[4] In this age group it also presents with gait ataxia, dysarthria, drooling, irritability, vomiting, and insomnia.[3]
- It has a relapse-remitting course. Symptoms may vary in duration during relapses and the remission period is also variable, but usually the relapses last at least 48-72h.[3]
- Children affected by the disease may not be fully asymptomatic between the episodes of the disease, persisting with significant speech and language deficits, sleep and some behavioral changes.[3]
- Most patients have no detectable antibody, but a few patients presenting with neuroblastoma do have anti-neuronal and anti-Purkinje cell antibodies.[4]
- Children with neuroblastoma and opsoclonus myoclonus syndrome usually have a better prognosis for their neuroblastomas as they are in more differentiated stages.[1]
Differentiating Opsoclonus Myoclonus syndrome from other Diseases
- Opsoclonus myoclonus syndrome must be differentiated from acute inflammatory cerebellar ataxia, which can be differentiated by the type of eye movement, rapid recovery without treatment and absence of irritability.[5]
Epidemiology and Demographics
- The prevalence of opsoclonus myoclonus syndrome is approximately 1 per 1,000,000 individuals worldwide.
Age
- Opsoclonus myoclonus syndrome is more commonly observed among patients aged 18 months old and may occur up to 5-6 years old.[6]
- Relapses of the disease may affect adults.
Gender
- Girls are slightly more affected with opsoclonus myoclonus syndrome than boys.[6]
Race
- There is no racial predilection for opsoclonus myoclonus syndrome.[4]
Risk Factors
- There are no risk factors associated with the development of opsoclonus myoclonus syndrome.
Natural History, Complications and Prognosis
- The majority of patients with opsoclonus myoclonus syndrome present with a relapse-remitting form of the disease.
- Early clinical features begin mostly at 18 months of age, and include myoclonus, opsoclonus, irritability and ataxia.[7]
- If left untreated, the neurological deficits of patients with opsoclonus myoclonus syndrome may remain more severe and affect neurological development through childhood and teenage years.[1]
- Prognosis is generally poor, as the patients with opsoclonus myoclonus syndrome usually remain with developmental delays and severe learning difficulties.[1]
- Adult opsoclonus myoclonus syndrome can occur as a paraneoplastic syndrome in association with small cell lung cancer or breast cancer, half of the cases being idiopathic and parainfectious.[1]
Diagnosis
Diagnostic Criteria
- The diagnosis of opsoclonus myoclonus syndrome is made when at least 3 of the following 4 diagnostic criteria are met:[8]
- Neuroblastoma/
- Uncontrolled eye movement (opsoclonus)/
- A movement disorder with sudden muscle contractions (myoclonus) and/or lack of coordination (ataxia)/
- Behavioral and/or sleep disturbance.
Symptoms
- Opsoclonus myoclonus syndrome presents in a relapse-remitting manner.
- There are acute and chronic symptoms.
- The classic symptoms are mostly seen in acute disease and they are:[6]
- The symptoms presenting in the chronic disease may be a residual opsoclonus and abnormalities of eye movement which may be elicited by re-fixating from near to far or squeezing the eyelids shut. Hypometric saccades and smooth eye pursuit movements can remain abnormal for years. Children may also remain not as coordinated as their peers. Expressive language is generally more affected than receptive language, and cognitive deficits may become more evident in teenagers.[7]
Physical Examination
- Physical examination may be remarkable for:
- Ataxia: children present with an acute or subacute form of ataxia, losing the ability to walk and/or sit over a period ranging from one day to a few weeks, accompanied by severe irritability and myoclonus, being the first diagnosis proposed for most children often post-infectious acute cerebellar ataxia of childhood.[7]
- Opsoclonus: must be differentiated from nystagmus, which is present in most acute cerebellar ataxias. Opsoclonus is multidirectional, conjugate, non-phasic and fast in contrast with nystagmus, which is phasic, may be conjugated, unidirectional.[7]
- Myoclonus: ranges from polymyoclonia to coarse multifocal jerks, and may be persistent and exacerbated by emotional distress and movement.[7]
- Behavioral changes: development regression and personality change may also be seen.[7]
Laboratory Findings
- There are no specific laboratory markers associated with opsoclonus myoclonus syndrome.[9]
- In adults with opsoclonus myoclonus syndrome, a blood exam may show Hu anti-neuronal nuclear antibodies (anti-Hu) but not in children.[8]
- In some patients cerebrospinal fluid evaluation is necessary to detect neuroinflammation. These studies should include oligoclonal bands (with paired serum sample), aiming to detect antibodies in the CSF and flow cytometry of the lymphocytes using immunophenotyping, which may find an increased frequency of CSF CD19+ B cells, which is a biomarker of opsoclonus myoclonus disease activity.[6]
- Atypical cases may warrant autoantibodies tests in some children, but this is not cost-effective.[6]
Imaging Findings
- Opsoclonus myoclonus syndrome may present with neuroblastoma in half of the cases (one author reported 80% of the cases), though only 2-3% of neuroblastoma present with opsoclonus myoclonus syndrome.[7]
- In the evaluation of a child with opsoclonus myoclonus syndrome, it is usually performed either a CT scan with contrast or MRI with gadolinium of the neck, chest, abdomen, and pelvis[6] as neuroblastomas can arise from sympathetic nervous system, being most frequent in the abdomen (2/3 of the cases) and thorax (20% of the cases)[10]
- On CT scans, the neuroblastoma is heterogeneous with calcifications being commonly seen. Usually the tumor insinuates itself beneath the aorta and lifting it off the vertebral column.[10]
- MRIs are superior to all other exams on detecting neuroblastomas and shows the tumor being heterogenous and iso to hypo intense on T1, and hyper intense on T2, with cystic/necrotic areas being easily identifiable.[6]
- On adults, the most associated neoplasms are small cell lung cancer, breast carcinoma, and ovarian teratoma[11], and PET scans are done to evaluate for occult tumors.[6]
Other Diagnostic Studies
- There are no other diagnostic studies that may be used to diagnose opsoclonus myoclonus syndrome.
Treatment
Medical Therapy
- The mainstay of therapy for opsoclonus myoclonus syndrome is rule it out as a paraneoplastic syndrome and then early and aggressive immunotherapy to obtain a durable and complete neurological remission.[6]
- Corticosteroids (prednisolone at 2mg/kg/day and tapered slowly or dexamethasone 20mg/m2/day for 3 days) and ACTH are the gold standard[11] and they act by binding to intracellular receptors which then act to modulate gene transcription in target tissues, decreasing the production of pro-inflammatory cytokines.
- IVIG (1gr/kg for 12 cycles) may also be used alone or in combination with corticosteroids, and recent studies suggests that the combination is indeed more effective.[11] Most patients respond to such initial treatment.[12]
- There have been reports of dexamethasone being used with cyclophosphamide, rituximab (chimeric anti-CD20 monoclonal antibody that depletes circulating B cells) in moderately severe opsoclonus myoclonus syndrome, but such associations as also plasma exchange should be reserved for severe cases or cases refractory to IVIG, corticosteroids or a combination of both.[11]
- Corticosteroids and IVIG alone are insufficient to prevent relapse or disease progression, and multimodal combination immunotherapy with disease modifying agents significantly improve long-term outcome when given early.[3]
- Some studies show that combining imunotherapy with rituximab, ACTH and IVIG, adhering to a more aggressive approach can significantly reduce the cognitive impairment and morbidity on opsoclonus myoclonus syndrome.[3]
- Ofatumumab can be used in children allergic to rituximab. Rituximab should be avoided in the absence of B lymphocytes on the CSF.[3]
- There are reports that intensive immunosuppression can be associated with improved long-term neurological outcome.[11]
- Most children will have relapses with corticosteroid dose tapering.[11]
- Patients should be assessed for treatment following the flowchart below as proposed by Pranzatelli:[3]
TREATMENT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitigate Trigger | Treat/Retreat Neuroinflammation | Reassess for high risk | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Treat Infections with antimicrobials | Escalate or restart steroids or ACTH | Retest for neuroinflammation as needed | Review previous drug responses | Add or change modifying disease drugs | Formal IQ testing | Treat comorbid neuropsychiatric problems | Avoid potential pitfalls | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Give IVIG as needed | Select tapering method | Multimodal combination immunotherapy | Intensify speech therapy, PT, OT | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surgery
- If opsoclonus myoclonus syndrome is due to a paraneoplastic etiology, then surgical resection of the tumor is needed (in children, neuroblastoma is the most common, in adults there are many such as small cell lung cancer and breast cancer).
- Surgery may be performed to treat such tumors along other methods of treatments such as chemotherapy and/or radiation.
- Resection and treatment of the neuroblastoma improves the acute symptoms, but only rarely prevents neurologic sequelae.[7]
- Most children with paraneoplastic opsoclonus myoclonus syndrome have localized disease which makes surgical resection more feasible. They also are likely to have tumors with favorable cytogenetic and histopathologic traits, with a better prognosis of their oncologic disease.[4]
Prevention
- There are no primary preventive measures available for opsoclonus myoclonus syndrome.
Overview
Historical Perspective
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
There have been several outbreaks of [disease name], including -----.
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
Classification
There is no established system for the classification of [disease name].
OR
[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].
OR
[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].
OR
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
OR
If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
OR
The staging of [malignancy name] is based on the [staging system].
OR
There is no established system for the staging of [malignancy name].
Pathophysiology
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Causes
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Differentiating ((Page name)) from other Diseases
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
OR
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
Epidemiology and Demographics
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
OR
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
OR
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
Patients of all age groups may develop [disease name].
OR
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
OR
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
OR
[Chronic disease name] is usually first diagnosed among [age group].
OR
[Acute disease name] commonly affects [age group].
There is no racial predilection to [disease name].
OR
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
[Disease name] affects men and women equally.
OR
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
The majority of [disease name] cases are reported in [geographical region].
OR
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Risk Factors
There are no established risk factors for [disease name].
OR
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
OR
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
OR
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
Screening
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR
According to the [guideline name], screening for [disease name] is not recommended.
OR
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
Natural History, Complications, and Prognosis
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Diagnosis
Diagnostic Study of Choice
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
There are no established criteria for the diagnosis of [disease name].
History and Symptoms
The majority of patients with [disease name] are asymptomatic.
OR
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
Physical Examination
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Laboratory Findings
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal among patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Electrocardiogram
There are no ECG findings associated with [disease name].
OR
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
X-ray
There are no x-ray findings associated with [disease name].
OR
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with [disease name].
OR
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
CT scan
There are no CT scan findings associated with [disease name].
OR
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
MRI
There are no MRI findings associated with [disease name].
OR
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Other Imaging Findings
There are no other imaging findings associated with [disease name].
OR
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
Treatment
Medical Therapy
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
OR
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
OR
The majority of cases of [disease name] are self-limited and require only supportive care.
OR
[Disease name] is a medical emergency and requires prompt treatment.
OR
The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
OR
[Therapy] is recommended among all patients who develop [disease name].
OR
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
OR
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
OR
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
OR
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
Surgery
Surgical intervention is not recommended for the management of [disease name].
OR
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
OR
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
OR
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
OR
Surgery is the mainstay of treatment for [disease or malignancy].
Primary Prevention
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
OR
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
Secondary Prevention
There are no established measures for the secondary prevention of [disease name].
OR
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Blaes, Franz, and Backialakshmi Dharmalingam. "Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment." Expert review of neurotherapeutics 16.6 (2016): 641-648.
- ↑ Pranzatelli MR, Tate ED, McGee NR, Travelstead AL, Ranso- hoff RM, Ness JM, et al. Key role of CXCL13/CXCR5 axis for cerebrospinal fluid B cell recruitment in pediatric OMS. J Neuroimmunol 2012;243:81–8.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Pranzatelli, Michael R., and Elizabeth D. Tate. "Trends and tenets in relapsing and progressive opsoclonus-myoclonus syndrome." Brain and Development 38.5 (2016): 439-448.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 "American Academy of Ophthalmology - Opsoclonus Myoclonus Syndrome". American Academy of Ophthalmology. 07/04/2020. Check date values in:
|date=
(help) - ↑ "ORPHANET - Opsoclonus-Myoclonus Syndrome". ORPHANET. 07/04/2020. Check date values in:
|date=
(help) - ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 6.8 "NORD - National Organization for Rare Diseases - Opsoclonus-Myoclonus Syndrome". NORD. 07/04/2020. Check date values in:
|date=
(help) - ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 7.7 Matthay, Katherine K., et al. "Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004." Cancer letters 228.1-2 (2005): 275-282.
- ↑ 8.0 8.1 "Genetic and Rare Diseases Information Center - Opsoclonus Myoclonus Syndrome". GARD. 07/04/2020. Check date values in:
|date=
(help) - ↑ Pike M. Opsoclonus-myoclonus syndrome. Handb Clin Neurol 2013;112:1209–11.
- ↑ 10.0 10.1 "Radiopaedia - Neuroblastomas". Radiopaedia.org. 07/04/2020. Check date values in:
|date=
(help) - ↑ 11.0 11.1 11.2 11.3 11.4 11.5 Oh, Sun-Young, Ji-Soo Kim, and Marianne Dieterich. "Update on opsoclonus–myoclonus syndrome in adults." Journal of neurology 266.6 (2019): 1541-1548.
- ↑ Rudnick, Emily, et al. "Opsoclonus‐myoclonus‐ataxia syndrome in neuroblastoma: Clinical outcome and antineuronal antibodies—a report from the children's cancer group study." Medical and Pediatric Oncology: The Official Journal of SIOP—International Society of Pediatric Oncology (Societé Internationale d'Oncologie Pédiatrique 36.6 (2001): 612-622.