Síndrome opsoclonus-mioclonus-ataxia asociado con un teratoma ovárico maduro en un paciente pediátrico / Opsoclonus-mioclonus-ataxia syndrome associated with a mature ovarian teratoma in a pediatric patient

Resumen El síndrome de opsoclonus-mioclonus-ataxia es una entidad rara que cursa con síntomas motores, neurocognitivos y psiquiátricos, con frecuencia marcadamente debilitantes. El síndrome se reporta con mayor frecuencia en adultos que en niños, la etiología es variada, pero en pediatría se presenta en la mayoría de los casos como un síndrome paraneoplásico. En este contexto la neoplasia más frecuentemente asociada es el neuroblastoma. La evidencia actual apoya la tesis de que este es un síndrome mediado inmunológicamente al haberse identificado una serie de auto-anticuerpos en los pacientes afectados, y a que muchos de ellos responden a terapia inmunosupresora. La importancia del reconocimiento de este síndrome radica en que existe tratamiento médico y quirúrgico que podría mejorar el pronóstico neurológico y psiquiátrico. Presentamos el caso de una paciente que se presentó con este síndrome en nuestra institución.

Abstract The opsoclonus-myoclonus-ataxia syndrome is a rare entity that presents with motor, neurocognitive and psychiatric symptoms, often markedly de bilitating. The syndrome is reported more frequently in adults than in chil dren, the etiology is varied, but in pediatrics it occurs in most cases as a paraneoplastic syndrome. In this context, the most frequently associated neoplasm is neuroblastoma followed by gynecological tumors. The current evidence supports the thesis that this is an immune-mediated syndrome because a series of circulating autoantibodies has been described in the affected patients, in addition to many of them responding to immuno suppressive therapy. The importance of recognizing this syndrome is that there is medical/surgical treatment available that could improve the neu rological and psychiatric prognosis. Next, we present the case of a patient who presented with this syndrome in our institution.

Síndrome de opsoclonus mioclonus secundario a neuroblastoma abdominal. Presentación de un caso clínico pediátrico / Opsoclonus myoclonus syndrome secondary to abdominal neuroblastoma. Presentation of a pediatric clinical case

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.

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.

Síndrome De Kinsbourne: Papel De Rituximab / Kinsbourne Syndrome: Role Of Rituximab

Resumen El Síndrome de Kinsbourne también conocido como "síndrome de opsoclonus-mioclonus" (SOM) o "síndrome de los ojos danzantes" se considera una enfermedad rara y poco frecuente. Se caracteriza por una triada clásica: movimientos oculares rápidos, irregulares, multidireccionales (opsoclonus), movimientos mioclónicos en tronco, cara y/o extremidades y ataxia. La etiología es diversa pudiendo presentarse tanto de origen paraneoplásico como no paraneoplásico e idiopática. Fundamentalmente el tratamiento se realiza con inmunosupresores (corticoides), posteriormente inmunoglobulinas inespecifícas endovenosas y rituximab endovenoso. Procedemos a presentar un caso clínico de un niño de 4 años el cuál presentó dicho síndrome debido a una infección por Klebsiella pneumoniae.

Abstract: Kinsbourne syndrome, also known as "Opsoclonus-myoclonus syndrome" or "Dancing eyes syndrome" is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus), myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma), non-paraneoplasic (infectious processes) or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a four years-old boy with this syndrome secondary to an infectious urinary illness. He had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone and intravenous gammaglobulin. He started with rituximab with a good response. He had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.

Caracterização clínica das síndromes neurológicas durante a tríplice epidemia de arboviroses em Salvador, Bahia, Brasil / Clinical characterization of neurological syndromes during the triple arbovirus epidemic in Salvador, Bahia, Brazil

INTRODUÇÃO: Os arbovírus são vírus transmitidos por vetores artrópodes e diversos deles podem ser encontrados em cocirculação no Brasil. Complicações neurológicas associadas aos vírus dengue (DENV), chikungunya (CHIKV) e zika (ZIKV) já foram descritas anteriormente na literatura. Durante a tríplice epidemia de arboviroses houve um aumento importante de casos neurológicos, principalmente síndrome de Guillain-Barré (GBS).MATERIAL E MÉTODOS: Iniciada uma vigilância hospitalar para síndromes neurológicas agudas, onde foram incluídos pacientes avaliados em unidades neurológicas de dois hospitais de referência em Salvador/BA durante o período de maio de 2015 a abril de 2016.RESULTADOS: Cinco artigos foram escritos para melhor caracterização do tema. Dois casos de GBS clássico associado ao ZIKV foram publicados durante o surto supracitado, sendo um dos primeiros artigos no Brasil relacionando as duas doenças. Foi realizada a descrição com detalhes o caso da rara síndrome opsoclonus-mioclonusencefalite (OMAS), no qual a pacientes e apresentara com alteração de sensório, movimentos oculares anárquicos e ataxia. Na investigação foram detectados o DENV e CHIKV no plasma e o CHIKV no líquor pelo RTPCR.A paciente foi tratada com corticoide venoso e teve alta com melhora funcional, semalterações cognitivas ou motoras. Uma série de 5 casos descreveu com mais detalhe uma forma neurológica mais leve, a polineuropatia sensitiva reversível (RSP). Todos os pacientes apresentaram quadros transitórios, exclusivamente de alterações sensitivas; dois casos tinham evidência de infecção recente por ZIKV e outros 2 por CHIKV. Uma série de casos de pacientes com GBS, avaliou 14 indivíduos, sendo que 50% destes apresentavam variantes dessa doença. Havia uma maior prevalência de acometimento do nervo facial do que nas populações previamente estudadas. Prevaleceu a forma desmielinizante na eletroneuromiografia desses pacientes. Setenta e dois por cento dos pacientes foram reavaliados em 30 dias e todos tiveram ótima recuperação funcional. Por fim foi escrito um estudo de corte transversal que descreveu as síndromes neurológicas ocorridas em Salvador durante o surto da tríplice arboviral com 29 pacientes acompanhados; aproximadamente 50% se apresentaram com GBS ou suas variantes. Outras manifestações como encefalites, mielites, OMAS e RSP foram descritas. Cerca de 80% dos pacientes apresentavam evidência sorológica de infecção recente por ZIKV ou CHIKV. CONCLUSÃO: Foram descritas manifestações neurológicas como GBS e outras síndromes relacionadas às arboviroses. O melhor conhecimento dessas manifestações pode trazer benefício para prevenção, diagnóstico e tratamento dessas doenças, assim como melhorar as ações em saúde pública para combate às complicações por arboviroses

INTODUCTION: Arboviruses are viruses transmitted by arthropod vectors and several ofthem can be found in cocirculation in Brazil. Neurological complications associated with dengue virus (DENV), chikungunya (CHIKV) and zika (ZIKV) have previously been described in the literature. During the triple epidemic of arboviruses there was a significant increase in neurological cases, mainly Guillain-Barré syndrome (GBS). MATERIAL AND METHODS: A hospital surveillance for acute neurological syndromes was started, which included patients evaluated in neurological units of two reference hospitals in Salvador / BA during the period from May 2015 to April 2016. RESULTS: Five articles were written to better characterize the clinical manifestations. Two cases of classic GBS associated with ZIKV were published during triple arbovirosis outbreak, being one of the first articles in Brazil correlating the two diseases. A detailed description was made of the rare opsoclonus-myoclonus encephalitis syndrome (OMAS), in another article, in which the patient presented with confusion, anarchical ocular movements and ataxia. DENV and CHIKV were detected in plasma and CHIKV in the CSF by RT-PCR. The patient was treated with venous corticosteroids and was discharged with functional improvement, without cognitive or motor alterations. A series of 5 cases described a milder neurological form, the reversible sensory polyneuropathy (RSP). All patients presented only with transient sensory disturbances; two cases evidenced recent infection by ZIKV and another 2 by CHIKV. A case-series of GBS patients evaluated 14 individuals, with 50% of them presenting with GBS subtypes. There was a higher prevalence of facial nerve involvement than in the previously studied populations. The demyelinating form prevailed in the electroneuromyography studies of these patients. Seventy-two percent of the patients were reassessed in 30 days and all had an optimal functional recovery. Finally, a cross-sectional study was written and described the neurological syndromes that occurred in Salvador during the outbreak of the triple arboviral with 29 patients followed up; approximately 50% presented with GBS or its subtypes. Other manifestations such as encephalitis, myelitis, OMAS and RSP were described. About 80% of the patients had serological evidence of recent infection by ZIKV or CHIKV. CONCLUSION: Neurological manifestations such as GBS and other syndromes related to arbovirus have been described. The better knowledge of these manifestations can benefit the prevention, diagnosis and treatment of these diseases, as well as to improve the actions in public health to combat complications by arbovirosis

Síndrome de Kinsbourne: reporte de un caso / Síndrome de Kinsbourne: reporte de um caso / Kinsbourne syndrome: Report of a case

El síndrome de Kinsbourne, conocido también como “síndrome de opsoclonus-mioclonus” o “síndrome de los ojos danzantes”, es una enfermedad rara caracterizada por movimientos oculares rápidos, irregulares, multidireccionales (opsoclonus), movimientos mioclónicos en tronco, cara y/o extremidades y ataxia; se presenta entre los 6 y 36 meses de edad. Su etiología puede ser paraneoplásica (neuroblastoma), no paraneoplásica (infecciosa) o idiopática. Independientemente de la causa, se han utilizado inmunosupresores para reducir la formación de anticuerpos posiblemente involucrados en su fisiopatología. Presentamos el caso de una niña lactante de 21 meses con este síndrome secundario a un cuadro respiratorio viral. Tuvo ataxia, opsoclonus, mioclonías de miembros superiores, irritabilidad y alteración en el patrón de sueño. Se descartó el diagnóstico de neuroblastoma. El tratamiento inicial se hizo con pulsos de metilprednisolona seguida de prednisolona oral. Sus síntomas desaparecieron progresivamente y recuperó la marcha; actualmente está asintomática y sin secuelas. En estos pacientes se debe descartar siempre un síndrome paraneoplásico.

Kinsbourne syndrome, also known as “Opsoclonus-myoclonus syndrome” or “Dancing eyes syndrome” is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus), myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma), non-paraneoplasic (infectious processes) or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a 21 month-old girl with this syndrome secondary to an infectious respiratory illness. She had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone. She had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.

A síndrome de Kinsbourne, conhecida também como “síndrome de opsoclonus-mioclonus” a “síndrome dos olhos dançantes”, é uma doença rara caracterizada por movimentos oculares rápidos, irregulares, multidirecionais (opsoclonus), movimentos mioclônicos em tronco, cara e/ou extremidades e ataxia; se apresenta entre os 6 e 36 meses de idade. Sua etiologia pode ser paraneoplásica (neuroblastoma), não paraneoplásica (infecciosa) ou idiopática. Independentemente da causa, se há utilizado imunossupressores para reduzir a formação de anticorpos possivelmente envolvidos em sua fisiopatologia. Apresentamos o caso de uma criança lactante de 21 meses com esta síndrome secundária a um quadro respiratório viral. Teve ataxia, opsoclonus, mioclonias de membros superiores, irritabilidade e alteração no padrão de sono. Se descartou o diagnóstico de neuroblastoma. O tratamento inicial se fez com pulsos de metilprednisolona seguida de prednisolona oral. Seus sintomas desapareceram progressivamente e recuperou a marcha; atualmente está assintomática e sem sequelas. Nestes pacientes se deve descartar sempre uma síndrome paraneoplásico.

Síndrome opsoclonus mioclonus paraneoplásico en pediatría: reporte de caso y revisión de la literatura / Paraneoplastic opsoclonus myoclonus syndrome in children: case report and literature review

El síndrome opsoclonus mioclonus (SOM) es una entidad poco frecuente en pediatría que por consenso de expertos se define como aquel que cumple tres de cuatro criterios: opsoclonus, ataxia, mioclonus, alteraciones de la conducta o del sueño y diagnóstico de neuroblastoma. Frecuentemente el SOM en niños se presenta asociado a tumores de la cresta neural, siendo el neuroblastoma el más prevalente, seguido por ganglioneuroblastoma, ganglioneuroma y hepatoblastoma. La asociación SOM y neuroblastoma tiene su pico de incidencia entre los 6 y 36 meses de edad y la posibilidad de que un niño con SOM tenga un neuroblastoma es de cerca del 50%. Si bien el SOM no es una patología frecuente en pediatría, su asociación con enfermedades neoplásicas sí lo es y desconocer su existencia y la presentación clínica puede llevar a demoras o subdiagnóstico del tumor con impacto negativo en el pronóstico tanto de la entidad de base como del futuro neurológico del paciente. Se presenta el caso de una niña de 15 meses con SOM asociado a ganglioneuroblastoma retroperitoneal que mejoró luego de la resección del tumor y el tratamiento con corticoides e inmunoglobulina.

Opsoclonus Myoclonus Syndrome (OMS) is a rare condition in children, that for expert consensus is defined to be met three of the four criteria: opsoclonus, ataxia, myoclonus, behavioral disorders or sleep and diagnosis of neuroblastoma. OMS frequently occurs in children associated with neural crest tumors, the most prevalent being neuroblastoma, followed by ganglioneuroblastoma, ganglioneuroma, and hepatoblastoma. The OMS association and neuroblastoma has a peak incidence between 6 and 36 months of age and the possibility that a child with neuroblastoma have a OMS is about 50%. While the OMS is not a common pediatric pathology, its association with neoplastic disease is very strong and ignore its existence and clinical presentation may lead to delays or underdiagnosis of the tumor with negative impact on the prognosis of the entity base and the future neurological patient. Here we present the case of a girl of 15 months with OMS associated with retroperitoneal ganglioneuroblastoma that improved after tumor resection and treatment with corticosteroids and immunoglobulin.

Degeneração olivar hipertrófica após ressecção de metástase cerebelar: relato de caso e revisão da literatura / Hypertrophic olivary degeneration secondary to resection of cerebellar metastasis: case report and literature review

Degeneração olivar hipertrófica resulta de lesão no circuito formado pelos núcleos denteado, rubro e olivar inferior (triângulo de Guillain e Mollaret). Pode ser secundária a hemorragias, trauma, neoplasias, entre outras causas que lesem estruturas desse circuito. Destaca-se a relevância deste relato de caso por apresentar um caso de degeneração olivar hipertrófica bilateral, secundária a insulto em ambos os núcleos denteados após ressecção de metástase.

Hypertrophic olivary degeneration represents the results of a lesionthat damages the neuronal connections between the dentate nucleus of the cerebellum, the red nucleus, and the inferior olivary nucleus (Guillain Mollaret triangle). This entity can occur secondary to hemorrhage, trauma, neoplasm and other causes that candamage structures of this pathway. This is an important case report because of its description of a bilateral hypertrophic olivary degeneration, secondary to injuries in both dentate nucleous after metastatic resection.

Síndrome de opsoclonus-mioclonus / Opsoclonus-myoclonus syndrome

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.