Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome.

BACKGROUND: Global developmental delay, lack of speech, and severe epilepsy are the characteristic hallmarks of Angelman syndrome (AS). The purpose of this study was to explore the utility of brain magnetic resonance imaging (MRI) as an ancillary tool for the diagnosis of AS. MATERIAL AND METHODS: Brain MRI images of nine laboratory-confirmed patients with AS from a neurorehabilitation center in Rio de Janeiro were reviewed. Each MRI was assessed by a set of two experienced neuroradiologists following a predefined protocol. RESULTS: The main neuroimaging findings revealed in our study were: Thinning of the corpus callosum in five patients; enlargement of lateral ventricles in four patients; and, cerebral atrophy with frontal and temporal predominance in one patient. All patients presented with an increased signal intensity in T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequences. CONCLUSION: The lack of specific changes in the brain MRI of children with AS observed in this case series rendered brain MRI a less helpful complementary test. Thus, a definitive diagnosis of AS could only be established on molecular biology that was undertaken based on the clinical suspicion of AS.

Microcephaly and arthrogryposis multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection.

The recent alarming statements concerning the newborn ZIKV-induced microcephaly epidemics in the Northeast of Brazil, released by the Brazilian Ministry of Health, as well as important international health agencies, such as the World Health Organization and the Pan American Health Organization, raised many "why and how" questions so far, that will hopefully be scientifically answered, as more researches in that regard come up in the long term. In this paper, we describe another potentially ZIKV-induced central nervous system and musculoskeletal disorder that has accompanied microcephaly in these children: atrhogryposis multiplex congenita. The goal is to bring up some hypotheses for possible underlying molecular mechanisms based on published data taken from animal models, such as ovine and cattle, which once infected by other types of arboviroses and viruses that also belong to the Flaviviridae family, presented, too, with the full-blown CNS spectrum of malformations at birth.

Guillain-Barré syndrome associated with the Zika virus outbreak in Brazil.

Zika virus (ZIKV) is now considered an emerging flavivirosis, with a first large outbreak registered in the Yap Islands in 2007. In 2013, a new outbreak was reported in the French Polynesia, with associated cases of neurological complications including Guillain-Barré syndrome (GBS). The incidence of GBS has increased in Brazil since 2015, what is speculated to be secondary to the ZIKV infection outbreak. The gold-standard test for detection of acute ZIKV infection is the polymerase-chain reaction technique, an essay largely unavailable in Brazil. The diagnosis of GBS is feasible even in resource-limited areas using the criteria proposed by the GBS Classification Group, which is based solely on clinical grounds. Further understanding on the relationship of ZIKV with neurological complications is a research urgency.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

Guillain-Barré syndrome: advances and future perspectives / Síndrome de Guillain-Barré: avanços e perspectivas futuras

The first case of Guillain-Barré syndrome was described in 1916. Since then, knowledge about the pathophysiology and immunogenesis of this acquired inflammatory polyradiculoneuropathy has been growing steadily, especially after the advent of nerve conduction studies and the discovery of pathogenic autoantibodies. In the present study, we conducted a review of the main information available in the literature to date about the syndrome, including its diagnosis and management.

A síndrome de Guillain-Barré teve seu primeiro caso descrito em 1916. Desde então, o conhecimento sobre a fisiopatologia e imunogênese dessa polirradiculoneuropatia inflamatória adquirida vem crescendo continuamente, especialmente após o advento dos estudos de condução nervosa e a descoberta de auto-anticorpos patogênicos. No presente estudo, realizamos uma revisão das principais informações disponíveis na literatura até o presente momento sobre a síndrome, incluindo seu diagnóstico e manejo.

Guillain-Barré syndrome associated with the Zika virus outbreak in Brazil / Síndrome de Guillain-Barré associada ao surto de infecção por vírus Zika no Brasil

ABSTRACT Zika virus (ZIKV) is now considered an emerging flavivirosis, with a first large outbreak registered in the Yap Islands in 2007. In 2013, a new outbreak was reported in the French Polynesia, with associated cases of neurological complications including Guillain-Barré syndrome (GBS). The incidence of GBS has increased in Brazil since 2015, what is speculated to be secondary to the ZIKV infection outbreak. The gold-standard test for detection of acute ZIKV infection is the polymerase-chain reaction technique, an essay largely unavailable in Brazil. The diagnosis of GBS is feasible even in resource-limited areas using the criteria proposed by the GBS Classification Group, which is based solely on clinical grounds. Further understanding on the relationship of ZIKV with neurological complications is a research urgency.

RESUMO O vírus Zika (VZIK) é agora considerado uma flavivirose emergente, com um primeiro grande surto registrado nas ilhas Yap, em 2007. Em 2013, novo surto foi registado na Polinésia francesa, com complicações neurológicas, incluindo a síndrome de Guillain-Barré (SGB). A incidência de SGB experimentou um aumento durante o ano de 2015, o que se especula ser secundário ao surto de infecção pelo ZIKV. A técnica em reação em cadeia de polimerase é considerado o teste padrão-ouro, mas é pouco disponível no Brasil. O diagnóstico da SGB é possível mesmo em áreas com recursos limitados usando os critérios propostos pelo GBS Classification Group, os quais são baseados exclusivamente em achados clínicos. Um maior entendimento da relação entre a infecção pelo ZIKV e complicações neurológicas é uma urgência de pesquisa.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease / Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto

ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

RESUMO A doença de Pompe (DP) é uma doença grave, potencialmente letal, devida ao depósito de glicogênio na fibra muscular e ativação de vias autofágicas. Tratamento promissor para a DP é a reposição enzimática com a enzima recombinante humana alfa-glicosidase ácida (rhAGA -Myozyme®). A necessidade de organizar uma propedêutica diagnóstica, sistematizar o seguimento clínico e sedimentar as novas recomendações terapêuticas tornaram-se vitais à medida que o tratamento permite uma maior longevidade aos pacientes. Uma força-tarefa de clínicos experientes no manejo da DP foi constituída para elaborar um protocolo para o diagnóstico, acompanhamento clínico, tratamento, aconselhamento genético, entre outras considerações voltadas ao paciente adulto. O estudo foi realizado sob a coordenação da Rede Brasileira de Estudos da Doença de Pompe (REBREPOM). Diante da raridade da DP e escassez de trabalhos de alto impacto de evidência científica, os especialistas emitiram suas opiniões.

Placebo and nocebo effects in the neurological practice / Efeitos placebo e nocebo na prática neurológica

Knowledge of placebo and nocebo effects is essential to identify their influence on the results in clinical practice and clinical trials, and thereby properly interpret their results. It is known that the gold standard of clinical trials research is the double-blind, placebo-controlled, randomized clinical study. The objective of this review is to distinguish specific from non-specific effects, so that the presence of positive effects in the group that received placebo (placebo effect) and the presence of adverse effects in the group receiving placebo (nocebo effect) lead to confounding in interpreting the results. Placebo and nocebo effects have been considered in neurological diseases such as depression, pain, headache, multiple sclerosis, epilepsy. As placebo and nocebo effects are also present in clinical practice, the purpose of this review is to draw attention to their influence on neurological practice, calling attention to the development of measures that can minimize them.

O conhecimento dos efeitos placebo e nocebo é essencial para identificar a sua influência sobre os resultados na prática clínica e ensaios clínicos, e, assim, interpretar corretamente seus resultados. Sabe-se que o padrão-ouro dos estudos clínicos de pesquisa é o ensaio clínico randomizado, placebo-controlado, duplo-cego. O objetivo da revisão é distinguir os efeitos específicos e não específicos, de modo que a presença de efeitos positivos no grupo que recebeu placebo (efeito placebo) e a presença de efeitos adversos no grupo que recebeu placebo (efeito nocebo) levam à confusão na interpretação dos resultados. Placebo e nocebo são descritos em doenças neurológicas como a depressão, dor, cefaleia, esclerose múltipla, epilepsia. Como os efeitos placebo e nocebo também se projetam na prática clínica, o objetivo desta revisão é o de destacar sua influência na prática neurológica, chamando a atenção para o desenvolvimento de medidas que possam minimizá-los.

Leprosy late-onset neuropathy: an uncommon presentation of leprosy / Neuropatia de início tardio: uma apresentação incomum da hanseníase

Clinical and pathological findings in leprosy are determined by the natural host immune response to Mycobacterium leprae. We previously described cases of painful neuropathy (PN) with no concurrent cause apart from a past history of leprosy successfully treated. Four leprosy previously treated patients who developed a PN years after multidrug therapy (MDT) are reported. The mean patient age was 52.75 years (47-64). The mean time interval of the recent neuropathy from the previous MDT was 19 years (12-26). A painful multiplex neuritis or polyneuropathy were observed respectively in two cases. Electrophysiological studies disclosed a sensory axonal neuropathy in two cases. Microvasculitis with no bacilli was seen in nerve biopsy. Neuropathic symptoms were improved with prednisone. We consider these cases as being a leprosy late-onset neuropathy (LLON) form of presentation. A delayed immune reaction could explain the late appearance of LLON.

Dados clínicos e patológicos são determinados pela resposta imune ao Mycobacterium leprae. Já haviamos descrito previamente casos de neuropatia dolorosa (ND) sem causa associada exceto história de hanseníase tratada. Relatamos agora quatro pacientes previamente tratados que desenvolveram ND anos após multidrogaterapia (MDT). A média de idade foi de 52,75 anos (47-64). O intervalo de tempo para o aparecimento da neuropatia recente, em relação à MDT prévia, foi de 19 anos (12-26). Neurite múltipla ou polineuropatia dolorosa foram observadas em dois casos. Estudos eletrofisiológicos revelaram ocorrência de neuropatia sensitiva axonal em dois casos. Em biópsia de nervos, foi observada microvasculite sem a presença de bacilos. Os sintomas neuropáticos melhoraram com o uso de prednisona. Consideramos esses casos como sendo a forma de apresentação de neuropatia da hanseníase de início tardio (NHIT). Reação imune tardia poderia explicar o aparecimento da NHIT.

Avaliação social e econômica de pacientes com esclerose lateral amiotrófica atendidos no Hospital Universitário Antônio Pedro e Instituto de Neurologia Deolindo Couto / Sociological and Economic evaluation of amyotrophic lateral sclerosis

A Esclerose Lateral Amiotrófica (ELA) é uma doença progressiva e degenerativa que afeta os neurônios motores da medula espinhal, do tronco cerebral e do córtex motor, cuja mortalidade deve-se principalmente ao comprometimento da função respiratória. Objetivos. Caracterizar social e economicamente os pacientes com ELA e apresentar questões relativas ao suporte familiar, à qualidade dos serviços prestados e a acessibilidade de habitação. Material e Métodos. Estudo retrospectivo dos processos sociais e prontuários de 50 pacientes com ELA, assim como a realização de entrevistas individuais. Resultados e Discussão. O grau de deficiência na esfera econômica e social apresentado pela maioria dos pacientes tornou-os impotentes perante algumas questões enfrentadas e, logicamente, dependentes de diversos auxílios. Conclusão. A família possuí um papel essencial, quer ao nível do tratamento quer no suporte pessoal do doente à sua situação de deficiência/incapacidade.

Amyotrophic Lateral Sclerosis (ALS) is a progressive and degenerative illness that affects the motor neurons of the spinal cord, brainstem and motor cortex, whose mortality is caused mainly by impairment of the respiratory function. Objectives. Characterize social and economically the patients with ALS and to present questions relative to the familiar support, the quality of the support services and the accessibility of habitation. Material and Methods. Retrospective study of the social processes and medical records of 50 patients with ALS, as well as the accomplishment of individual interviews. Results and Discussion. The low degree in the economic and social sphere, presented by most patients make them powerless in view of numerous difficulties they need to face, and logically, dependents of several aids. Conclusion. The family has an essential paper in the treatment level and in the personal support of the patient to its situation of deficiency/incapacity.