ABSTRACT
BACKGROUND: Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America. METHODS: We analyzed the data of patients diagnosed with OMS between 2010 and 2020 at Pequeno Principe Hospital (Brazil) to determine the corresponding clinical profile more accurately. RESULTS: Of the approximately 50,000 visitors to our pediatric neurology department from 2010 to 2020, 10 patients with OMS were observed. Five nontumor cases included three parainfectious and two idiopathic cases. The median time from symptom onset to diagnosis was 34 days. All patients with diagnostic OMS criteria in the idiopathic, nontumor group underwent whole-exome sequencing, with potentially pathogenic mutations identified in two cases. Nine patients were treated with methylprednisolone pulse, followed by oral steroids; eight received one or more intravenous immunoglobulin treatments; and six received azathioprine and cyclophosphamide. Complete symptomatic recovery was observed in only one patient. CONCLUSIONS: OMS diagnosis remains challenging. Diagnostic suspicion is necessary to improve the management of these patients and allow early immunosuppressive treatment. Paraneoplastic etiology is the most prevalent. In idiopathic patients who do not respond to immunosuppressive treatment, tests, such as whole-exome sequencing, may reveal a differential diagnosis. Genetic alterations that increase the risk of tumors may be an important clue to the pathophysiology of OMS.
Subject(s)
Opsoclonus-Myoclonus Syndrome , Child , Humans , Opsoclonus-Myoclonus Syndrome/diagnosis , Opsoclonus-Myoclonus Syndrome/drug therapy , Opsoclonus-Myoclonus Syndrome/etiology , Latin America , Hospitals, Pediatric , Cyclophosphamide , Immunosuppressive AgentsSubject(s)
Ovarian Neoplasms/complications , Paraneoplastic Syndromes/etiology , Teratoma/complications , Adolescent , Ataxia/etiology , Female , Headache/etiology , Humans , Magnetic Resonance Imaging , Opsoclonus-Myoclonus Syndrome/etiology , Ovarian Neoplasms/diagnosis , Teratoma/diagnosis , Vertigo/etiologyABSTRACT
Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients. The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.
El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento. Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.
Subject(s)
Abdominal Neoplasms/complications , Adrenal Gland Neoplasms/complications , Neuroblastoma/complications , Opsoclonus-Myoclonus Syndrome/etiology , Abdominal Neoplasms/diagnosis , Abdominal Neoplasms/therapy , Adrenal Cortex Hormones/administration & dosage , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/therapy , Child, Preschool , Combined Modality Therapy , Humans , Immunoglobulins/administration & dosage , Male , Neuroblastoma/diagnosis , Neuroblastoma/therapy , Opsoclonus-Myoclonus Syndrome/diagnosis , Rituximab/administration & dosageSubject(s)
Eye Movements/physiology , Mediastinal Neoplasms/complications , Neuroblastoma/complications , Opsoclonus-Myoclonus Syndrome/diagnosis , Child, Preschool , Diagnosis, Differential , Humans , Magnetic Resonance Imaging/methods , Male , Mediastinal Neoplasms/diagnosis , Neuroblastoma/diagnosis , Opsoclonus-Myoclonus Syndrome/etiology , Opsoclonus-Myoclonus Syndrome/physiopathology , Positron Emission Tomography Computed Tomography/methodsABSTRACT
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye movements, myoclonus, cerebellar ataxia, sleep disturbances, and cognitive dysfunction. Although most commonly related to paraneoplastic syndrome, this condition has occasionally been described following infectious illnesses. This article reports the first case of OMAS in association with chikungunya and dengue virus co-infection. The genetic analysis identified chikungunya virus of East/Central/South African genotype and dengue serotype 4 virus of genotype II. This report represents an unusual clinical syndrome associated with viral co-infection and reinforces the need for clinical vigilance with regard to neurological syndromes in the context of emergent arboviruses.
Subject(s)
Chikungunya Fever/complications , Coinfection/complications , Dengue/complications , Opsoclonus-Myoclonus Syndrome/etiology , Adult , Chikungunya virus/genetics , Dengue Virus/genetics , Female , Humans , Opsoclonus-Myoclonus Syndrome/drug therapyABSTRACT
El síndrome de opsoclonus-mioclonus o síndrome de Kinsbourne es un trastorno poco frecuente. El diagnóstico es clínico y se caracteriza por la presencia de opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En 45% de los casos se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y sutratamiento es en base a inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Durante años los corticoides han sido el tratamiento gold standard, asociándose posteriormente la inmunoglobulina endovenosa. Sinembargo, dada la alta prevalencia de corticodependencia y de sus efectos adversos, así como el mal pronóstico neurológico (entre 70% y 80% de los casos pueden tener secuelas neurológicas: déficit cognitivo, alteraciones visuales, motoras, práxicas, del lenguaje y conductuales), las investigaciones en los últimos años se han centrado en la utilización de nuevos fármacos. Los últimos estudios publicados avalan el uso de la terapia multimodal con el agregado de un tercer fármaco como el rituximab o laciclofosfamida. Se presenta el caso clínico de un varón de 2 años y 4 meses con diagnóstico de síndrome deopsoclonus-mioclonus se cundario a un neuroblastomatorácico en el que se realizó la resección tumoral y tratamiento con corticoides, inmunoglobulina y ciclofosfamida. Presentó una recaída frente al descenso de los corticoides y, actualmente, al año y seis meses del diagnóstico bajo dosis bajas de corticoides tiene un retraso en la adquisición del lenguaje sin otros síntomas acompañantes
Subject(s)
Humans , Male , Child, Preschool , Opsoclonus-Myoclonus Syndrome/diagnosis , Opsoclonus-Myoclonus Syndrome/etiology , Opsoclonus-Myoclonus Syndrome/therapy , Neuroblastoma/complications , Thoracic Neoplasms , Adrenal Cortex Hormones/adverse effects , Adrenal Cortex Hormones/therapeutic useABSTRACT
El síndrome de opsoclonus-mioclonus o síndrome de Kinsbourne es un trastorno poco frecuente. El diagnóstico es clínico y se caracteriza por la presencia de opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En 45% de los casos se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y sutratamiento es en base a inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Durante años los corticoides han sido el tratamiento gold standard, asociándose posteriormente la inmunoglobulina endovenosa. Sinembargo, dada la alta prevalencia de corticodependencia y de sus efectos adversos, así como el mal pronóstico neurológico (entre 70% y 80% de los casos pueden tener secuelas neurológicas: déficit cognitivo, alteraciones visuales, motoras, práxicas, del lenguaje y conductuales), las investigaciones en los últimos años se han centrado en la utilización de nuevos fármacos. Los últimos estudios publicados avalan el uso de la terapia multimodal con el agregado de un tercer fármaco como el rituximab o laciclofosfamida. Se presenta el caso clínico de un varón de 2 años y 4 meses con diagnóstico de síndrome deopsoclonus-mioclonus se cundario a un neuroblastomatorácico en el que se realizó la resección tumoral y tratamiento con corticoides, inmunoglobulina y ciclofosfamida. Presentó una recaída frente al descenso de los corticoides y, actualmente, al año y seis meses del diagnóstico bajo dosis bajas de corticoides tiene un retraso en la adquisición del lenguaje sin otros síntomas acompañantes...
Subject(s)
Humans , Male , Child, Preschool , Neuroblastoma/complications , Opsoclonus-Myoclonus Syndrome/diagnosis , Opsoclonus-Myoclonus Syndrome/etiology , Opsoclonus-Myoclonus Syndrome/therapy , Thoracic Neoplasms , Adrenal Cortex Hormones/adverse effects , Adrenal Cortex Hormones/therapeutic useABSTRACT
Objetivo: Descrever o caso de uma criança do sexo masculino que apresenta sintomas de forma súbita de Opsoclonus-mioclonus associada a tumor da crista neural. Descrição: Os autores relatam um caso de uma criança do sexo masculino de 1 ano e 10 meses que apresenta, subitamente, instabilidade de tronco e membros, tremores e ataxia. Três dias depois aparece opsoclonus, caracterizando a Síndrome de Opsoclonus-mioclonus. Uma massa tumoral retroperitoneal compatível com neuroblastoma foi encontrada em tomografia computadorizada de abdome. Discussão: Quando é feito o diagnóstico de Opsoclonus-mioclonus, a pesquisa de tumores deve periodicamente ser pesquisada, uma vez que estes podem se manifestar agudamente ou tardiamente...
Objective: To describe the case of a male child who presents sudden symptoms of Opsoclonus-myoclonus associated to a neural crest tumor. Description: The authors report a case of a 22-month-old male child that suddenly presents instability from trunk and limbs, trembling and ataxia. Three days later, the opsoclonus appeared and opsoclonus-myoclonus Syndrome was diagnosed. A retroperitoneal tumor, compatible with neuroblastoma was found through an abdominal computed tomography scan. Discussion: When the Opsoclonus-myoclonus is diagnosed, the search for tumors must persist periodically, since these tumors can present acute or late manifestation...
Subject(s)
Humans , Male , Infant , Ataxia , Neuroblastoma/diagnosis , Opsoclonus-Myoclonus Syndrome/etiology , Ocular Motility Disorders/etiologyABSTRACT
The opsoclonus-myoclonus syndrome in children is a rare entity which is characterized by irritability, chaotic ocular movements with vertical, horizontal, rotatory components (opsoclonus) along with myoclonus and ataxia. In a high proportion of cases, it is associated with neuroblastoma although other etiologies involving infectious or toxic agents have been reported. An autoimmune mechanism would be responsible for the dysfunction of structures in brain stem and cerebellum thus explaining some of the cardinal symptoms such as opsoclonus, myoclonus and ataxia. However, encephalopathic symptoms and the high percentage of patients with neurocognitive and psychiatric sequels are in favor of a wider dysfunction. Treatment with steroids, ACTH, immunomodulatory or immunosuppressive drugs is being used although prospective studies are needed to determine whether the prolonged use of these drugs influences favorably the evolution of these patients.
Subject(s)
Opsoclonus-Myoclonus Syndrome/therapy , Child, Preschool , Female , Humans , Male , Opsoclonus-Myoclonus Syndrome/etiology , Opsoclonus-Myoclonus Syndrome/physiopathology , PrognosisABSTRACT
El síndrome opsoclonus- mioclonus es una rara entidad, que en niños se caracteriza por: irritabilidad, movimientos oculares caóticos con componentes verticales, horizontales, rotatorios (opsoclonus), mioclonus y ataxia. Se asocia en un alto porcentaje de casos con neuroblastoma aunque otras etiologías son también reconocidas (infecciosa-parainfecciosa, tóxicos). Un mecanismo autoinmune se considera responsable de la disfunción de estructuras en el tronco cerebral y cerebelo, que explicarían algunos de los síntomas cardinales (opsoclonus-mioclonus, ataxia). Sin embargo los signos de compromiso encefalopáticos y el elevado porcentaje de pacientes con secuelas neurocognitivas y psiquiátricas hablarían a favor de una disfunción más amplia. El tratamiento con esteroides, ACTH y drogas inmunomoduladoras e inmunosupresoras es actualmente utilizado, sin embargo es necesario realizar estudios prospectivos con protocolos terapéuticos uniformes para definir si el uso prolongado de estas drogas influencian favorablemente la evolución en este grupo de pacientes.
The opsoclonus-myoclonus syndrome in children is a rare entity which is characterized by irritability, chaotic ocular movements with vertical, horizontal, rotatory components (opsoclonus) along with myoclonus and ataxia. In a high proportion of cases, it is associated with neuroblastoma although other etiologies involving infectious or toxic agents have been reported. An autoimmune mechanism would be responsible for the dysfunction of structures in brain stem and cerebellum thus explaining some of the cardinal symptoms such as opsoclonus, myoclonus and ataxia. However, encephalopathic symptoms and the high percentage of patients with neurocognitive and psychiatric sequels are in favor of a wider dysfunction. Treatment with steroids, ACTH, immunomodulatory or immunosuppressive drugs is being used although prospective studies are needed to determine whether the prolonged use of these drugs influences favorably the evolution of these patients.