Recommendations for Neuroblastoma Associated Opsoclonus-myoclonus-ataxia Syndrome in Childhood / 罕见病研究

@#Opsoclonus-myoclonus-ataxia syndrome(OMAS) is a rare neurological disorder. This disease is often associated with neuroblastoma(NB). OMAS and neuroblastoma in children in China are treated separately by neurology, medical and surgical oncology. In this group of children, NB usually has a good prognosis, while OMAS is prone to sequelae, but the lack of standardized evaluation and follow-up is not conducive to the diagnosis and treatment of the disease. In this study, experts from multidisciplinary fields worked together to develop recommendations for the diagnosis, treatment and follow-up of NB associated OMAS in children, hoping to improve the prognosis of children through standardized management of this group of children.

Ataxias cerebelosas e infecciones virales: caracterización clínica y mecanismos neuropatogénicos / Cerebellar ataxias and viral infections: clinical characterization and neuropathogenic mechanisms

Introducción: La ataxia constituye una alteración en la coordinación de los movimientos, resultado de una disfunción del cerebelo, sus conexiones, así como alteraciones en la médula espinal, nervios periféricos o una combinación de estas condiciones. Las ataxias se clasifican en hereditarias, esporádicas y en adquiridas o secundarias, en las cuales los virus neurotrópicos constituyen los principales causantes. Objetivo: Actualizar los conocimientos relacionados con las ataxias causadas por virus neurotrópicos y los mecanismos neurodegenerativos que pudieran tener relación con la ataxia. Métodos: Se realizó una revisión bibliográfica incluyendo artículos publicados en las principales bases de datos bibliográficas (Web of Sciences, Scopus, SciELO). Se utilizaron las palabras claves: ataxia, virus neurotrópicos, ataxias cerebelosas, ataxias infecciosas, en inglés y español. Análisis e integración de la información: Los virus más conocidos que provocan ataxias infecciosas son el virus de inmunodeficiencia humana, virus del herpes simple, virus del herpes humano tipo 6, virus de la varicela zoster, virus Epstein-Barr, virus del Nilo Occidental, y enterovirus 71, aunque existen otros virus que causan esta afectación. Los mecanismos neuropatogénicos sugeridos son la invasión directa del virus y procesos inmunopatogénicos desencadenados por la infección. Estos virus pueden causar ataxia cerebelosa aguda, ataxia aguda posinfecciosa, síndrome opsoclono-mioclono-atáxico y ataxia por encefalomielitis aguda diseminada. Aunque la mayoría de los reportes de casos informan la evolución satisfactoria de los pacientes, algunos refieren complicaciones neurológicas e incluso la muerte. Conclusiones: Actualmente existe la necesidad de profundizar en el estudio de este tipo de ataxia para favorecer su diagnóstico y tratamiento(AU)

Introduction: Ataxia is an alteration in the coordination of movements caused by a dysfunction of the cerebellum and its connections, as well as alterations in the spinal cord, the peripheral nerves, or a combination of these factors. Ataxias are classified into hereditary, sporadic and acquired or secondary, in which neurotropic viruses are the main causative agents. Objective: Update knowledge about ataxias caused by neurotropic viruses and the neurodegenerative mechanisms which could bear a relationship to ataxia. Methods: A review was conducted of papers published in the main bibliographic databases (Web of Sciences, Scopus, SciELO), using the search terms ataxia, neurotropic virus, cerebellar ataxias, infectious ataxias, in English and in Spanish. Discussion: The best known viruses causing infectious ataxias are the human immunodeficiency virus, herpes simplex virus, human herpesvirus 6, varicella zoster virus, Epstein-Barr virus, Western Nile virus and enterovirus 71, though other viruses may also cause this condition. The neuropathogenic mechanisms suggested are direct invasion of the virus and immunopathogenic processes triggered by the infection. These viruses may cause acute cerebellar ataxia, acute postinfectious ataxia, opsoclonus-myoclonus-ataxia syndrome and ataxia due to acute encephalomyelitis disseminata. Though most case reports describe a satisfactory evolution of patients, some refer to neurological complications and even death. Conclusions: There is a current need to carry out further research about this type of ataxia to improve its diagnosis and treatment(AU)

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

A Case of Opsoclonus-Myoclonus-Ataxia Syndrome in Ganglioneuroblastoma / 대한소아혈액종양학회지

The presence of rare paraneoplastic syndrome, the opsoclonus-myoclonus-ataxia syndrome (OMA), may strongly signal the presence of neuroblastoma. We report a case of ganglioneuroblastoma presented with OMA. A 26 month-old girl was admitted due to progressive ataxic gait and myoclonic jerking of the limbs. Brain and spine MRI scans were normal and cerebrospinal fluid analysis showed no specific abnormal finding. Abdominal computed tomography (CT) demonstrated about 3x1.5 cm sized well enhancing solid mass originated from the right adrenal gland. Urinary vanillyl mandelic acid (VMA) was mildly elevated and urinary homovanillic acid (HVA) was normal. After complete resection of the tumor, she was diagnosed with ganglioneuroblastoma and her symptomatology had disappeared.