Definição e diagnóstico de neuropatia de fibras finas: consenso do Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia

The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by selective involvement of unmyelinated or thinly myelinated sensory fibers. Its clinical picture includes both negative and positive manifestations: sensory (pain/ dysesthesias/pruritus) or combined sensory and autonomic complaints, associated with an almost entirely normal neurological examination. Standard electromyography is normal. A growing list of medical conditions is associated with SFN. The classification of SFN may also serve as a useful terminology to uncover minor discrepancies in the normal values from different neurophysiology laboratories. Several techniques may disclose sensory and/or autonomic impairment. Further studies are necessary to refine these techniques and develop specific therapies.O objetivo deste estudo é descrever os resultados de um Consenso Brasileiro sobre Neuropatia de Fibras Finas (NFF). Quinze neurologistas (membros da Academia Brasileira de Neurologia) revisaram uma versão preliminar do artigo. Onze panelistas se reuniram na cidade de Fortaleza para discutir e terminar o texto para a submissão do manuscrito. NFF pode ser definida como um subtipo de neuropatia caracterizada pelo envolvimento seletivo de fibras sensitivas amielínicas ou pouco mielinizadas. Seu quadro clínico inclui manifestações negativas e positivas: sensitivas (dor/disestesias/prurido) ou queixas sensitivas e autonômicas combinadas, associadas a exame neurológico quase totalmente normal. A eletromiografia convencional é normal. Uma lista crescente de condições médicas causa NFF. NFF também pode servir como uma terminologia útil para referenciar pequenas discrepâncias nos valores normais de diferentes laboratórios de neurofisiologia. Diferentes técnicas podem evidenciar anormalidades sensitivas e/ou autonômicas. São necessários mais estudos para refiná-las e para o desenvolvimento de terapias específicas.Univ Fed Ceara, Fac Med, Hosp Univ Walter Cantidio, Fortaleza, CE, BrazilUniv Sao Paulo, Fac Med Ribeirao Preto, Dept Neurociencias & Hosp Clin, Ribeirao Preto, SP, BrazilUniv Fed Santa Catarina, Florianopolis, SC, BrazilUniv Fed Rio de Janeiro, Dept Neurol, Rio De Janeiro, RJ, BrazilUniv Fed Cariri, Barbalha, CE, BrazilUniv Fed Fluminense, Fac Med, Dept Neurol, Niteroi, RJ, BrazilUniv Estadual Campinas, Dept Neurol, Campinas, SP, BrazilUniv Regiao Joinville, Joinville, SC, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Uberlandia, Fac Med, Uberlandia, MG, BrazilHosp Moinhos De Vento, Porto Alegre, RS, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilWeb of Scienc

Prevalence of amyotrophic lateral sclerosis in the city of Porto Alegre, in Southern Brazil

Objective : To determine the prevalence of amyotrophic lateral sclerosis (ALS) in the city of Porto Alegre, Brazil. Method : We conducted an extensive investigation in clinics and hospitals that provide specialized assistance to these patients, contacted neurologists and the regional association of people with ALS. Results : On July 31, 2010, 70 patients were alive and diagnosed with amyotrophic lateral sclerosis. Considering the population living in the city in the same period (1,409,351), the estimated prevalence was 5.0 cases per 100,000 people (95% CI, 3.9-6.2), being higher for men (5.2/100,000 95% CI, 3.6-7.2) than for women (4.8/100,000 95% CI, 3.4-6.5). The prevalence increased with age peaking in the age group 70-79 years in both genders. Conclusion : The prevalence of ALS in the city of Porto Alegre is similar to that reported in other parts of the world

Prevalência de esclerose lateral amiotrófica na cidade de Porto Alegre, sul do Brasil

Objective: To determine the prevalence of amyotrophic lateral sclerosis (ALS) in the city of Porto Alegre, Brazil. Method: We conducted an extensive investigation in clinics and hospitals that provide specialized assistance to these patients, contacted neurologists and the regional association of people with ALS. Results: On July 31, 2010, 70 patients were alive and diagnosed with amyotrophic lateral sclerosis. Considering the population living in the city in the same period (1,409,351), the estimated prevalence was 5.0 cases per 100,000 people (95% CI, 3.9-6.2), being higher for men (5.2/100,000 95% CI, 3.6-7.2) than for women (4.8/100,000 95% CI, 3.4-6.5). The prevalence increased with age peaking in the age group 70-79 years in both genders. Conclusion: The prevalence of ALS in the city of Porto Alegre is similar to that reported in other parts of the world.Objetivo: Determinar a prevalência de esclerose lateral amiotrófica (ELA) no município de Porto Alegre, Brasil. Método: Foi realizada ampla busca em hospitais especializados, contato com neurologistas e com a associação regional dos portadores de ELA para identificar os casos. Resultados: No dia 31 de julho de 2010, 70 pacientes estavam vivos e com diagnóstico de ELA. Considerando a população residente no município no mesmo período (1.409.351), a prevalência estimada foi de 5,0 casos a cada 100.000 pessoas (IC 95%, 3,9-6,2), sendo maior para os homens (5,2/100.000 IC 95%, 3,6-7,2) do que para as mulheres (4,8/100.000 IC 95%, 3,4-6,5). A prevalência aumentou com a idade, atingindo um pico entre os 70 e 79 anos, em ambos os sexos. Conclusão: A prevalência de ELA no município de Porto Alegre é similar à encontrada em outras localidades no mundo

Cerebrovascular disease in pediatric patients

Doença cerebrovascular isquêmica (DCVI) é rara na infância, mas quando ocorre, o impacto pode ser muito sério. Pode ser a primeira manifestação de uma doença sistêmica. Relatamos a ocorrência de 12 casos de DCVI. Foram diagnosticados e tratados no Hospital de Clínicas de Porto Alegre (HCPA) na Unidade de Neuropediatria de março de 1997 a março de 2000. Todos os casos com suspeita clínica de DCVI foram confirmados por avaliação radiológica de recém-nascidos de termo (RNT) a crianças até 12 anos de idade, que internaram na Unidade de Pediatria do HCPA. Eles foram acompanhados de um a seis anos (média 3,4 anos). Os sintomas iniciais foram: hemiparesia em 9 pacientes, convulsões em 7, desvio da comissura labial em 3 e perda da consciência em um. O aumento do reconhecimento de DCVI em crianças, auxiliado pela confirmação do diagnóstico através de exames não invasivos, tem auxiliado na identificação da etiologia. As etiologias mais frequentes foram doenças hematológicas, cardíacas e genéticas. Contudo, nosso estudo mostrou 6 recém-nascidos com DCVI em que não foi identificada etiologia. Sete crianças com convulsões usaram fenobarbital. Em seis RNT com DCVI as convulsões estiveram restritas às primeiras 72 horas de vida.Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA) from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years). Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life

Cerebrovascular disease in pediatric patients

Doença cerebrovascular isquêmica (DCVI) é rara na infância, mas quando ocorre, o impacto pode ser muito sério. Pode ser a primeira manifestação de uma doença sistêmica. Relatamos a ocorrência de 12 casos de DCVI. Foram diagnosticados e tratados no Hospital de Clínicas de Porto Alegre (HCPA) na Unidade de Neuropediatria de março de 1997 a março de 2000. Todos os casos com suspeita clínica de DCVI foram confirmados por avaliação radiológica de recém-nascidos de termo (RNT) a crianças até 12 anos de idade, que internaram na Unidade de Pediatria do HCPA. Eles foram acompanhados de um a seis anos (média 3,4 anos). Os sintomas iniciais foram: hemiparesia em 9 pacientes, convulsões em 7, desvio da comissura labial em 3 e perda da consciência em um. O aumento do reconhecimento de DCVI em crianças, auxiliado pela confirmação do diagnóstico através de exames não invasivos, tem auxiliado na identificação da etiologia. As etiologias mais frequentes foram doenças hematológicas, cardíacas e genéticas. Contudo, nosso estudo mostrou 6 recém-nascidos com DCVI em que não foi identificada etiologia. Sete crianças com convulsões usaram fenobarbital. Em seis RNT com DCVI as convulsões estiveram restritas às primeiras 72 horas de vida.Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA) from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years). Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life

Endovascular treatment of a basilar artery dissecting aneurysm Fasciculações benignas responsivas à gabapentina

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.Fasciculações são sintomas presentes em um amplo espectro de condições, desde manifestações normais até doenças do neurônio motor. Elas representam também o principal aspecto da síndrome de fasciculações benignas. Relatamos um caso desta síndrome: uma paciente de 48 anos com queixas de fasciculações por três décadas que, mesmo após a compensação de um quadro de hipertireoidismo, permaneceu com os sintomas. A introdução de gabapentina levou a controle das fasciculações. Os dados disponíveis na literatura sobre as abordagens terapêuticas para fasciculações são revisados, assim como os raros relatos de evolução de pacientes com fasciculações "benignas" para casos de esclerose lateral amiotrófica, salientando a importância do seguimento dos pacientes com fasciculações

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy

ABSTRACT Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. The first and last authors produced a draft summarizing the main views on the subject and emailed the text to 10 other specialists. Relevant literature on this subject was reviewed by each participant and used for the individual review of the whole text. Each participant was expected to review the text and send a feedback review by e-mail. Thereafter, the 12 panelists got together at the city of Fortaleza, discussed the controversial points, and reached a consensus for the final text

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology

ABSTRACT The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by selective involvement of unmyelinated or thinly myelinated sensory fibers. Its clinical picture includes both negative and positive manifestations: sensory (pain/dysesthesias/pruritus) or combined sensory and autonomic complaints, associated with an almost entirely normal neurological examination. Standard electromyography is normal. A growing list of medical conditions is associated with SFN. The classification of SFN may also serve as a useful terminology to uncover minor discrepancies in the normal values from different neurophysiology laboratories. Several techniques may disclose sensory and/or autonomic impairment. Further studies are necessary to refine these techniques and develop specific therapies