F-waves persistence in peripheral sensory syndromes / Persistência das ondas-F nas síndromes sensitivas periféricas

Abstract Background The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, this task is often challenging in clinical practice. We hypothesize that F-wave assessment might be helpful, since it is able to detect subtle signs of motor involvement, which are found in SP and SM, but not in SN. Objective The aim of the present study was to determine whether F-waves are useful to distinguish SN from SP and SM. Methods We selected 21 patients with SP (12 diabetes mellitus, 4 transthyretin familial amyloid polyneuropathy, 4 others), 22 with SM (22 leprosy), and 26 with SN (13 immune-mediated, 10 idiopathic, 3 others) according to clinical-electrophysiological-etiological criteria. For every subject, we collected data on height and performed 20 supramaximal distal stimuli in median, ulnar, peroneal, and tibial nerves, bilaterally, to record F-waves. Latencies (minimum and mean) and persistences were compared across groups using the Kruskal-Wallis and Bonferroni tests. P-values < 0.05 were considered significant. Results All groups were age, gender, and height-matched. Overall, there were no significant between-group differences regarding F-wave latencies. In contrast, F-wave persistence was able to stratify the groups. Peroneal F-wave persistence was higher, bilaterally, in the SN group compared to SM and SP (p < 0.05). In addition, F-waves persistence of the ulnar and tibial nerves was also helpful to separate SN from SP (p < 0.05). Conclusion F-wave persistence of the peroneal nerves might be an additional and useful diagnostic tool to differentiate peripheral sensory syndromes.

Resumo Antecedentes A distinção entre neuronopatias sensitivas (SN) e polineuropatias sensitivas (SP) e multineuropatias sensitivas (SM) é importante para a investigação etiológica e para o prognóstico. Contudo, esta tarefa é desafiadora na prática clínica. Hipotetizou-se que a avaliação das ondas-F pode ser útil, por ser capaz de detectar envolvimento motor nas SP e SM, mas não nas SN. Objetivo Determinar se as ondas-F podem ajudar a distinguir entre SN, SP e SM. Métodos Selecionou-se 21 pacientes com SP (12 diabetes mellitus, 4 ATTR-FAP e 4 com outras neuropatias), 22 com SM (22 hanseníases) e 26 com SN (13 imunomediadas, 10 idiopáticas e 3 com outras neuronopatias), de acordo com critérios clínicos, etiológicos e eletrofisiológicos. Para cada indivíduo, foi aferida a altura e foram aplicados 20 estímulos distais supramáximos nos nervos mediano, ulnar, fibular e tibial, bilateralmente, para registrar as ondas-F. Uma comparação foi feita, por grupo, das latências (mínimas e médias) e persistências pelos testes Kruskal-Wallis e Bonferroni. Valores de p < 0.05 foram considerados estatisticamente significativos. Resultados Todos os grupos foram pareados por idade, sexo e altura. Não houve diferença estatística significativa entre os grupos quanto às latências das ondas-F. A persistência da onda-F foi capaz de estratificar os grupos, sendo as dos nervos fibulares bilateralmente maiores no grupo SN que nos grupos SM e SP (p < 0.05). Adicionalmente, a persistência das ondas-F dos nervos ulnares e tibiais também foi útil para distinguir SN de SP (p < 0.05). Conclusão A persistência das ondas-F dos nervos fibulares pode ser uma ferramenta adicional e útil para diferenciar síndromes sensitivas periféricas.

The contribution of concentric electrode-evoked potentials and nociceptive withdrawal reflex to the routine neurophysiological assessment of neuropathic pain: cross-sectional study / A contribuição dos potenciais evocados por eletrodo concêntrico e reflexo de retirada nociceptiva para a avaliação neurofisiológica de rotina da dor neuropática: estudo observacional transversal

ABSTRACT BACKGROUND AND OBJECTIVES: Conventional electrodiagnostic studies (EDX) are frequently used to support the diagnosis of peripheral neuropathic pain. However, routine EDX has poor diagnostic yield for identifying small fiber neuropathy, which may be cause of neuropathic pain in some patients. This study aimed to assess the gain in diagnostic yield brought by adding pain-related evoked potentials with concentric electrode (CN-PREP) and nociceptive withdrawal reflex (NWR) assessments to EDX. METHODS: Transversal observational accuracy study which included patients referred to routine EDX in a tertiary-care hospital who reported chronic neuropathic pain in their lower limbs. Besides routine EDX, subjects underwent CN-PREP and NWR assessments. Diagnostic yield and tolerability were examined and compared between test studies. RESULTS: The study enrolled 100 patients (54% female), with 57 ± 12 years. EDX was altered in 47% of all patients. The addition of CN-PREP alone, and NWR combined with CN-PREP increased diagnostic yield to 69% and 72%, respectively. CN-PREP proved to be well tolerable, while NWR was associated with higher test-related pain intensity and discontinuation rate (9% vs. 0%). Considering EDX as the reference test, CN-PREP sensitivity was 85.1% and specificity 58.5%. CONCLUSION: Combining CN-PREP with the routine EDX for patients with neuropathic pain is feasible and results in increased diagnostic yield. Conversely, the addition of NWR to the aforementioned tests provides little improvement to this yield and is less tolerable to the patient. Further studies are needed to determine the actual sensitivity and specificity of CN-PREP when compared to the gold-standard for small fiber neuropathy diagnosis, i.e. intraepidermal nerve fiber density assessment.

RESUMO JUSTIFICATIVA E OBJETIVOS: Estudos convencionais de eletrodiagnóstico (EDX) são frequentemente usados para apoiar o diagnóstico de dor neuropática periférica. No entanto, o EDX de rotina tem baixo rendimento diagnóstico para identificar neuropatia de pequenas fibras. O objetivo deste estudo foi avaliar o ganho no rendimento diagnóstico pela adição de avaliações de potenciais evocados relacionados à dor com eletrodo concêntrico (CN-PREP) e reflexo de retirada nociceptiva (NWR) ao EDX. MÉTODOS: Estudo de precisão observacional transversal que incluiu pacientes encaminhados para EDX de rotina com dor neuropática crônica em membros inferiores. Além do EDX de rotina, os indivíduos foram submetidos às avaliações CN-PREP e NWR. O rendimento diagnóstico e a tolerabilidade foram examinados e comparados entre os estudos de teste. RESULTADOS: O estudo envolveu 100 pacientes (54% mulheres), com 57 ± 12 anos. O EDX estava alterado em 47%. A adição de CN-PREP sozinho e NWR combinado com CN-PREP aumentou o rendimento diagnóstico para 69% e 72%, respectivamente. O CN-PREP provou ser bem tolerável, enquanto o NWR foi associado a maior intensidade de dor relacionada ao teste e taxa de descontinuação (9% vs. 0%). Considerando o EDX como teste de referência, a sensibilidade do CN-PREP foi de 85,1% e a especificidade de 58,5%. CONCLUSÃO: A combinação do CN-PREP com o EDX de rotina para pacientes com dor neuropática é viável e resulta em maior rendimento diagnóstico. Já a adição de NWR aos testes mencionados fornece pouca melhora nesse rendimento e é menos tolerável para o paciente. Mais estudos são necessários para determinar a real sensibilidade e especificidade do CN-PREP quando comparado ao padrão-ouro para diagnóstico de neuropatia de pequenas fibras, ou seja, a avaliação da densidade de fibras nervosas intraepidérmicas.

Factores asociados al desarrollo de polineuropatía, miopatía y polineuromiopatía en pacientes adultos críticos / Development associated factors with polyneuropathy, myopathy and polyneuromyopathy in critically ill adult patients

Introducción. La polineuropatía, la miopatía y la polineuromiopatía son condiciones debilitantes que afectan a pacientes críticamente enfermos. Sin embargo, poco se conoce acerca de los factores relacionados con estos desenlaces en pacientes hospitalizados en las unidades de cuidado intensivo (UCI) y con hospitalización prolongada en el contexto clínico colombiano. Objetivo. Evaluar los factores asociados al desarrollo de polineuropatía, miopatía y polineuromiopatía en pacientes críticos con hospitalización prolongada. Métodos. Estudio analítico, observacional, de casos y controles apareados realizado en 192 pacientes (64 casos y 128 controles) atendidos en una clínica de tercer nivel de atención de Cali, Colombia. Se analizaron diferentes factores de riesgo como falla multiorgánica, sepsis, desnutrición, nutrición parenteral, uso de corticoides, uso de relajantes musculares, entre otros. Se evaluó si los días de estancia en UCI es un modificador del efecto de la relación entre estos factores y los desenlaces. Resultados. Se encontró que la falla multiorgánica (OR: 6,32, IC95%: 2,15-18,58), la desnutrición (OR: 2,25, IC95%: 1,01-5,0) y el uso de relajantes musculares (OR: 2,68, IC95%: 1,04-6,87) estuvieron asociados con el desarrollo de polineuropatía y miopatía. Así mismo, se observó que la asociación entre la falla multiorgánica y estas condiciones se vio afectada por la duración de la estancia en UCI (p<0,05). En pacientes sin falla multiorgánica, el riesgo aumentó mínimamente con cada día adicional de estancia en UCI (OR: 1,004, IC95%: 0,97-1,04); sin embargo, en pacientes con falla multiorgánica, el riesgo se incrementó en un 5% por cada día adicional de estancia en UCI. Conclusiones. Los resultados del presente estudio destacan la importancia de factores como la falla multiorgánica, la desnutrición y el uso de relajantes musculares en el desarrollo de la polineuropatía, la miopatía y la polineuromiopatía en pacientes críticos con hospitalización prolongada.

Introduction. Polyneuropathy, myopathy, and polyneuromyopathy are debilitating conditions that affect critically ill patients. However, little is known about the factors related to these outcomes in patients hospitalized in intensive care units (ICUs) and with prolonged hospitalization in the Colombian clinical context. Objective. To assess the factors associated with the development of polyneuropathy, myopathy and polyneuromyopathy in critically ill patients with prolonged hospitalization. Methods. Analytical, observational, matched case-control study conducted in 192 patients (64 cases and 128 controls) treated at a tertiary care clinic in Cali, Colombia. Different risk factors such as multi-organ failure, sepsis, malnutrition, parenteral nutrition, use of corticosteroids, use of muscle relaxants, among others, were analyzed. We assessed whether the length of stay in the ICU is a modifier of the effect of the relationship between these factors and the outcomes. Results. It was found that multiorgan failure (OR: 6.32, 95%CI: 2.15-18.58), malnutrition (OR: 2.25, 95%CI: 1.01-5.0) and the use of muscle relaxants (OR: 2.68, 95%CI: 1.04-6.87) were associated with the development of polyneuropathy and myopathy. Likewise, it was observed that the association between multi-organ failure and these conditions was affected by the length of stay in the ICU (p<0.05). In patients without multi-organ failure, the risk increased minimally with each additional day of stay in the ICU (OR: 1.004, 95%CI: 0.97-1.04); however, in patients with multi-organ failure, the risk increased by 5% for each additional day of stay in the ICU. Conclusions. The results of the present study highlight the importance of factors such as multi-organ failure, malnutrition and the use of muscle relaxants in the development of polyneuropathy, myopathy and polyneuromyopathy in critically ill patients with prolonged hospitalization.

Requerimiento de ventilación mecánica invasiva y traqueostomía en niños con síndrome de Guillain Barré en un hospital público pediátrico de la provincia de Buenos Aires. Estudio descriptivo y retrospectivo / Requirement of invasive mechanical ventilation and tracheostomy in children with Guillain Barré syndrome in a public pediatric hospital in the province of Buenos Aires. A descriptive and retrospective study

RESUMEN Objetivo: Describir el requerimiento de ventilación mecánica invasiva (VMI) y traqueostomía (TQT) y reportar la tasa de mortalidad en niños con síndrome de Guillain Barré (SGB) ingresados a un hospital público pediátrico de la provincia de Buenos Aires. Materiales y método: Estudio descriptivo, observacional, retrospectivo y longitudinal. Se incluyeron niños de 1 a 13 años diagnosticados con SGB, que ingresaron al Hospital de Niños "Sor María Ludovica", entre enero de 2010 y diciembre de 2019. Se registraron las variables demográficas y clínicas. Resultados: Se incluyeron 39 niños, de los cuales 24 (61%) eran de sexo masculino. La mediana de edad era de 4 años, y 25 (64,1%) eran menores de 5 años. Dieciséis (41%) niños requirieron VMI, con una mediana de duración de 25 (RIQ 3-83) días. De los niños ventilados, 14 (87,5%) requirieron TQT. Todos los niños se desvincularon de la VMI, y 7 (50%) fueron dados de alta del hospital sin decanular. Se observó que el uso de la VMI fue similar entre el grupo de 1 a 5 años y el grupo de mayor edad. No se registraron fallecimientos. Conclusión: Se observó un requerimiento de VMI en menos del 50% de los niños; de estos, la mayoría requirió TQT. Todos los niños fueron desvinculados de la VMI, y la mitad de los niños traqueostomizados fueron dados de alta del hospital con TQT porque no estaban aptos para la decanulación. Todos los niños fueron dados de alta con vida de la institución.

ABSTRACT Objective: To describe the need for invasive mechanical ventilation (IMV) and tracheostomy (TQT), and report the mortality rate in children with Guillain-Barré syndrome (GBS) admitted to a public pediatric hospital in the province of Buenos Aires. Materials and method: A descriptive, observational, retrospective, and longitudinal study was conducted. Children aged 1 to 13 years diagnosed with GBS, who were admitted to Hospital de Niños "Sor María Ludovica", between January 2010 and December 2019 were included. Demographic and clinical variables were registered. Results: Thirty-nine children were included, of whom 24 (61%) were male. The median age was 4 years, and 25 (64.1%) were under 5 years old. Sixteen (41%) required IMV, with a median duration of 25 (IQR 3-83) days. Of the ventilated children, 14 (43.7%) required a TQT. All children were successfully weaned from IMV, and 7 (50%) were discharged without decannulation. The use of IMV was similar between the group aged 1 to 5 years and the older age group. No deaths were recorded. Conclusion: The IMV requirement was observed in less than 50% of the children; of them, the majority underwent a TQT. All children were successfully weaned from IMV, and half of the tracheostomized children were discharged from hospital with a TQT because they were not suitable for decannulation. All children were discharged alive.

Assessment of neuromuscular electrical stimulation in critically ill patients: physical therapists' knowledge and barriers to its use / Avaliação do uso da estimulação elétrica neuromuscular em pacientes críticos: conhecimento dos fisioterapeutas e barreiras à implementação / Evaluación del uso de la electroestimulación neuromuscular en pacientes críticos: conocimiento de los fisioterapeutas y barreras para su implementación

ABSTRACT Transcutaneous neuromuscular electrical stimulation (NMES) is considered an important tool to prevent muscle mass and strength loss in patients admitted to intensive care units (ICU). This study aimed to evaluate physical therapists' profile and knowledge of NMES and identify the main barriers to its use in ICUs. This observational cross-sectional study was conducted via a structured questionnaire created by the authors. It consisted of 12 objective questions to analyze physical therapists' knowledge of NMES use in critically ill patients. Physical therapists were invited to participate in this study during an international symposium on NMES. In total, 56 physical therapists, with a mean age of 33.5±7.2 years and working an average of 9.7±7 years after graduation, completed the survey. Overall, 34 respondents worked in ICUs, of which only four (12%) reported regular NMES use in their ICUs. We found a low average of correct answers to our questionnaire (25%; 3/12). The main barriers reported to using NMES in ICUs were lack of knowledge (28; 50%) and equipment (24; 43%). The number of correct answers expert and non-expert physical therapists was not statistically significant (p=0.68). Thus, we observed participants' poor knowledge of NMES use in critically ill patients. Respondents showed that NMES has been underused in their ICUs. Lack of knowledge and equipment seems to be the main barriers for the use of NMES in ICUs.

RESUMO A estimulação elétrica neuromuscular transcutânea (EENM) é considerada uma importante ferramenta para prevenir a perda de força e massa muscular em pacientes internados em unidades de terapia intensiva (UTIs). Este estudo teve como objetivo avaliar o perfil e conhecimento dos fisioterapeutas sobre a EENM e identificar as principais barreiras para sua utilização na UTI. Foi realizado um estudo observacional transversal, por meio de um questionário estruturado elaborado pelos autores. O questionário foi composto por 12 questões objetivas que visavam analisar o nível de conhecimento dos fisioterapeutas sobre o uso da EENM em pacientes críticos. Os fisioterapeutas foram convidados a participar do estudo durante um simpósio internacional sobre EENM. Cinquenta e seis fisioterapeutas completaram a pesquisa, a média de idade foi de 33,5±7,2 anos e o tempo médio de graduação de 9,7±7 anos. Trinta e quatro entrevistados trabalhavam na UTI, e destes apenas 4 (12%) relataram que a EENM era realizada rotineiramente em suas UTIs. Observou-se baixo nível de conhecimento sobre o uso da EENM em pacientes críticos no questionário, com média de 25% de acertos (3/12). Ao comparar os fisioterapeutas especialistas e não especialistas, o número de acertos não foi estatisticamente significativo (p=0,68). As principais barreiras relatadas para a utilização da técnica foram a falta de conhecimento 28 (50%) e a falta de equipamentos 24 (43%). Os entrevistados demonstraram que a EENM tem sido subutilizada em suas UTIs.

RESUMEN La electroestimulación neuromuscular transcutánea (TENS) es una herramienta importante para prevenir la pérdida de fuerza y masa muscular en pacientes ingresados en unidades de cuidados intensivos (UCI). Este estudio tuvo como objetivo evaluar el perfil y el conocimiento de los fisioterapeutas sobre la TENS, así como identificar las principales barreras para su uso en la UCI. Se llevó a cabo un estudio observacional transversal mediante un cuestionario estructurado desarrollado por los autores. El cuestionario constaba de 12 preguntas objetivas cuyo objetivo era analizar el nivel de conocimiento de los fisioterapeutas sobre el uso de la TENS en pacientes críticos. Se invitó a los fisioterapeutas a participar en el estudio durante un simposio internacional sobre TENS. Cincuenta y seis fisioterapeutas completaron la encuesta, la edad media fue de 33,5±7,2 años, y el tiempo medio desde la graduación fue de 9,7±7 años. Treinta y cuatro encuestados trabajaban en la UCI, y de estos solo 4 (12%) informaron que la TENS se realizaba de forma rutinaria en las UCI donde trabajaban. Los resultados del cuestionario mostraron un bajo nivel de conocimiento sobre el uso de la TENS en pacientes críticos, con un promedio de 25% de respuestas correctas (3/12). En la comparación entre los fisioterapeutas especialistas y los no especialistas, el número de respuestas correctas no fue estadísticamente significativo (p=0,68). Las principales barreras reportadas para el uso de esta técnica fueron la falta de conocimiento 28 (50%) y la falta de equipamiento 24 (43%). Los encuestados demostraron que esta técnica es infrautilizada en las UCI.

Epidural morphine for chronic pain in a patient with peripheral neuropathy and DRESS syndrome. Case report / Morfina peridural para tratamento de dor crônica em paciente com polineuropatia periférica e síndrome DRESS. Relato de caso

ABSTRACT BACKGROUND AND OBJECTIVES: Peripheral neuropathy is a rare condition with many etiologies. Common symptoms are numbness, paresthesia, weakness and neuropathic pain. Treatment consists in frst-line agents such as anticonvulsants and some antidepressants. Te aim of this study was to report a case of chronic pain refractory to several therapies in a patient with absolute contraindication to the use of all anticonvulsants and antidepressants drugs. CASE REPORT: Female patient, a 40-year-old treated for trigeminal neuralgia with decompression that developed chronic occipital pain refractory to radiofrequency and onset of transient and bilateral T4 sensory and motor polyneuropathy after viral meningitis. In addition, she showed a severe pharmacodermy (Drug Rash with Eosinophilia and Systemic Symptoms- DRESS Syndrome) after using carbamazepine and other anticonvulsants, as well as allergy to all analgesics and opioids except morphine. Epidural puncture with insertion of a catheter was performed aiming at a 5-day test through intermittent epidural morphine bolus to assess the possibility of morphine pump implantation. CONCLUSION: The test was successful and the patient referred to the neurosurgery team. At the 6-month follow-up after the insertion of the morphine intrathecal pump, the strategy has proven to be efective in controlling pain secondary to polyneuropathy.

RESUMO JUSTIFICATIVA E OBJETIVOS: Neuropatia periférica é uma condição rara, de etiologia multifatorial. Dormência, parestesia, redução de força muscular e dor neuropática são sintomas comuns. O tratamento consiste em uso de anticonvulsivantes e antidepressivos. O objetivo deste estudo foi relatar o caso de dor crônica refratária a diversas terapias de uma paciente com contraindicação absoluta para uso de todos os fármacos anticonvulsivantes e antidepressivos. RELATO DO CASO: Paciente do sexo feminino, 40 anos, com história de neuralgia do trigêmeo abordada previamente com cirurgia, com cefaleia occipital crônica refratária à radiofrequência e polineuropatia bilateral T4 sensorial e motora após meningite viral. No curso do tratamento, apresentou grave farmacodermia (Drug Rash with Eosinophilia and Systemic Symptoms - Síndrome DRESS) após o uso de carbamazepina e outros anticonvulsivantes, além de reação alérgica a todos analgésicos e opioides, exceto morfina. Optou-se por analgesia teste por via peridural, durante 5 dias, com bolus intermitentes e diários de morfina para avaliação de possibilidade de implante de bomba de morfina. CONCLUSÃO: O teste foi considerado bem-sucedido e a paciente encaminhada para neurocirurgia. No seguimento de 6 meses após implante de bomba por via subaracnoidea, esta estratégia se mostrou eficaz no controle da dor secundária à polineuropatia.

Síndrome de Guillain-Barré postinfección por SARS-CoV-2 y postvacunación contra covid-19: una revisión sistemática de casos / Guillain-Barré syndrome post-SARS-CoV-2 infection and post-vaccination against COVID-19: a systematic review of cases

RESUMEN INTRODUCCIÓN: El síndrome de Guillain-Barré (SGB) se ha asociado recientemente con la infección por SARS-CoV-2 y su vacunación. El objetivo de esta revisión es describir los datos sociodemográficos y la presentación clínica del SGB asociado con la infección y la vacunación contra covid--19. MATERIALES Y MÉTODOS: Se realizó una búsqueda sistemática en las bases de datos Medline, Embase y LILACS. Se incluyeron reportes de casos publicados entre los años 2021 y 2022. De los artículos seleccionados se extrajo edad, sexo, comorbilidades, laboratorio de la vacuna, tiempo de inicio de síntomas, manifestaciones clínicas, método diagnóstico, tratamiento recibido y desenlace. RESULTADOS: Se seleccionaron 93 artículos, en los que se reporta un total de 131 casos: 82 asociados con la infección por SARS-CoV-2 y 49 asociados con la vacunación contra el covid-19. La población más afectada fue el sexo masculino y se encontró entre los 31 y los 65 años. Las principales manifestaciones descritas fueron: paresia de extremidades, compromiso de la sensibilidad, arreflexia, compromiso de los pares craneales. DISCUSIÓN: El cuadro clínico del SGB presentó características similares a la presentación clásica. La disautonomía y la falla respiratoria son las principales complicaciones mortales de esta entidad. CONCLUSIÓN: El SGB se puede presentar de manera postinfecciosa o parainfecciosa. Se debe sospechar cuando se consulta por cuadro clínico de neuropatía desmielinizante con antecedentes de inmunización o síntomas concomitantes sugestivos de covid-19. Se necesitan más estudios para establecer una asociación entre el virus y el SGB.

ABSTRACT INTRODUCTION: Guillain-Barre syndrome (GBS) has recently been associated with SARS-CoV-2 infection and vaccination. The objective of this review is to describe the sociodemographic data and the clinical presentation of GBS associated with infection and vaccination against COVID-19. MATERIALS AND METHODS: A systematic search was performed in the Medline, Embase and LILACS databases. Case reports published in 2021-2022 are included. From the selected articles, age, sex, comorbidi-ties, vaccine brand, symptom onset time, clinical manifestations, diagnostic method, treatment received and outcome were extracted. RESULTS: 93 articles were selected, reporting a total of 131 cases: 82 associated with SARS-CoV-2 infection and 49 associated with vaccination against COVID-19. The most affected population was the male sex and was between 31 and 65 years old. The main manifestations described were: limb paresis, compromised sensitivity, areflexia, compromised cranial nerves. DISCUSSION: The clinical picture of GBS presented characteristics similar to the classic presentation. Dys-autonomia and respiratory failure are the main fatal complications of this entity. CONCLUSION: GBS can present in a postinfectious, parainfectious manner. It should be suspected when consulting for a clinical picture of demyelinating neuropathy with a history of immunization or concomitant symptoms suggestive of COVID-19. More studies are needed to establish an association between the virus and GBS.

Lupus de inicio tardío neurológico asociado a accidente cerebrovascular en el adulto mayor: Reporte de caso y revisión sistemática rápida

Antecedentes: El Lupus Eritematoso Sistémico (LES) de inicio tardío es raro y afecta a adultos mayores. Reporte del caso: Se reporta a una mujer de 71 años con debilidad generalizada y pérdida de fuerza muscular, que aumentó súbitamente luego de un accidente cerebrovascular hemorrágico. La paciente presentó evolución tórpida por seis meses. El diagnóstico de LES de inicio tardío fue confirmado con anticuerpos antinucleares (+) y cumplimiento de criterios para LES y neurolupus, teniendo una mejoría significativa a las dos semanas de tratamiento. Luego de realizar una revisión sistemática rápida se encontraron pocos casos similares con neuropatía periférica. Conclusión: Es necesario considerar al LES de inicio tardío con neuropatía periférica en adultos mayores con debilidad muscular, como una presentación clínica atípica y la necesidad de exámenes confirmatorios.

Background: Late-onset Systemic Lupus Erythematosus (SLE) is rare and affects older adults. Case report: A 71-year-old woman is reported with generalized weakness and muscle strength loss, which increased suddenly after a hemorrhagic stroke. The patient presented a torpid evolution for six months. The diagnosis of late-onset SLE was confirmed with antinuclear antibodies (+) and compliance with criteria for SLE and neurolupus, with significant improvement after two weeks of treatment. We made a rapid systematic review and found few similar cases with peripheral neuropathy. Conclusion: It is necessary to consider late-onset SLE with peripheral neuropathy in older adults with muscle weakness, as an atypical clinical presentation and the need for confirmatory tests.

Fatores associados ao maior risco de ulceração nos pés de indivíduos com diabetes mellitus / Factors associated with the greatest risk of ulceration on the feet of individuals with diabetes mellitus

Objetivo: Diante da alta prevalência do Diabetes Mellitus, o estudo se propõe a identificar os fatores associados ao maior risco de desenvolver úlceras nos membros inferiores. Métodos: O trabalho foi exploratório-descritivo, transversal e com abordagem quantitativa. A amostra foi composta por pacientes com Diabetes acima de 18 anos de um serviço de saúde particular e um público. A coleta de dados ocorreu através de anamnese, exame físico e procura em prontuário. A análise estatística foi realizada pelo Programa SPSS 20.0. Resultados: Obteve-se 102 participantes no estudo, destes, 67,6% apresentaram critérios diagnósticos para Polineuropatia Simétrica Distal. Os fatores associados ao risco de ulceração foram: o envelhecimento, a maior duração da Diabetes, hipertensão, doença arterial periférica e a presença de sintomas típicos da Polineuropatia. Conclusão: É necessário investir na prevenção de úlceras em indivíduos com Diabetes através de educação em saúde e acompanhamento por profissionais da saúde (AU)

Objective: Given the high prevalence of Diabetes Mellitus, the study aims to identify the factors associated with a higher risk of developing ulcers in the lower limbs. Methods: The work was exploratory-descriptive, transversal and with a quantitative approach. The sample consisted of patients with Diabetes over 18 years of age from a private and a public health service. Data collection occurred through anamnesis, physical examination and search in medical records. Statistical analysis was perform using the SPSS 20.0 program. Results: 102 study participants were obtained, of wich 67,6% had diagnostic criteria for Distal Symmetric Polyneuropathy. Factors associated with the risk of ulceration were: aging, longer duration of diabetes, hypertension, peripheral arterial disease and the presence of typical symptoms of polyneuropathy. Conclusion: It is necessary to invest in the prevention of ulcers in individuals with Diabetes, through health education and monitoring by health professionals.Keywords: Diabetes Mellitus, Diabetic neuropathies, Polyneuropathies, Foot ulcer, Diabetic foot (AU)

Fatores associados ao maior risco de ulceração nos pés de indivíduos com diabetes mellitus / Factors associated with the greatest risk of ulceration on the feet of individuals with diabetes mellitus

RESUMO: Objetivo: Diante da alta prevalência do Diabetes Mellitus, o estudo se propõe a identificar os fatores associados ao maior risco de desenvolver úlceras nos membros inferiores. Métodos: O trabalho foi exploratório-descritivo, transversal e com abordagem quantitativa. A amostra foi composta por pacientes com Diabetes acima de 18 anos de um serviço de saúde particular e um público. A coleta de dados ocorreu através de anamnese, exame físico e procura em prontuário. A análise estatística foi realizada pelo Programa SPSS 20.0. Resultados: Obteve-se 102 participantes no estudo, destes, 67,6% apresentaram critérios diagnósticos para Polineuropatia Simétrica Distal. Os fatores associados ao risco de ulceração foram: o envelhecimento, a maior duração da Diabetes, hipertensão, doença arterial periférica e a presença de sintomas típicos da Polineuropatia. Conclusão: É necessário investir na prevenção de úlceras em indivíduos com Diabetes através de educação em saúde e acompanhamento por profissionais da saúde. (AU)

ABSTRACT: Objective: Given the high prevalence of Diabetes Mellitus, the study aims to identify the factors associated with a higher risk of developing ulcers in the lower limbs. Methods: The work was exploratory-descriptive, transversal and with a quantitative approach. The sample consisted of patients with Diabetes over 18 years of age from a private and a public health service. Data collection occurred through anamnesis, physical examination and search in medical records. Statistical analysis was perform using the SPSS 20.0 program. Results: 102 study participants were obtained, of wich 67,6% had diagnostic criteria for Distal Symmetric Polyneuropathy. Factors associated with the risk of ulceration were: aging, longer duration of diabetes, hypertension, peripheral arterial disease and the presence of typical symptoms of polyneuropathy. Conclusion: It is necessary to invest in the prevention of ulcers in individuals with Diabetes, through health education and monitoring by health professionals. (AU)

Ataxia espinocerebelosa tipo 10 de inicio tardío / Late-onset spinocerebellar ataxia type 10

Introducción. La ataxia espinocerebelosa es un grupo de desórdenes genéticos que consisten en una degeneración progresiva que afecta principalmente al cerebelo, el tronco encefálico y la médula espinal, y se asocia de forma variable con otros síntomas neurológicos. Presentación del caso. Mujer de 60 años sin antecedentes médicos relevantes, quien consultó al servicio de fisiatría por cuadro clínico de dos años de evolución consistente en alteración progresiva en la marcha, pérdida de fuerza en miembros inferiores, temblor en miembros superiores, disfagia y fatiga. Al examen físico se encontró disartria leve, disdiadococinesia, dismetría, sacadas hipométricas bilaterales y marcha atáxica. Se realizó resonancia magnética nuclear (RMN) del cerebro que mostró atrofia cerebelosa, y electromiografía y neuroconducciones que confirmó polirradiculoneuropatía axonal. Las pruebas genéticas moleculares evidenciaron expansión de una de una repetición de pentanucleotidos ATTCT, lo que confirmó el diagnóstico de ataxia cerebelosa tipo 10 (SCA10). Se inició manejo multidisciplinario donde fisiatría inició plan de rehabilitación neurológica, manejo del dolor con neuromodulador y prescripción de dispositivo de asistencia para la movilidad tipo caminador. La paciente mejoró su independencia en actividades de la vida diaria: el índice de Barthel pasó de 45 puntos a 75 tras 12 semanas en rehabilitación neurológica. Conclusión. La SCA10 se consideró inicialmente como una ataxia cerebelosa pura asociada a convulsiones; sin embargo, en los últimos años la identificación de nuevas familias con este desorden ha revelado fenotipos más diversos, incluyendo polineuropatía, signos piramidales y deterioro cognitivo y neuropsiquiátrico. Se describe aquí un caso de SCA10 de inicio tardío (más de 50 años de edad) que podría ser el primero esporádico reportado en Colombia.

Introduction. Spinocerebellar ataxia is a group of genetic disorders consisting of a progressive degeneration that mainly affects the cerebellum, brainstem and spinal cord, and is variably associated with other neurological symptoms. Case presentation. A 60-year-old woman with no relevant medical history consulted the physiatry service for a clinical picture of two years of evolution consisting of progressive gait disturbance, loss of strength in the lower limbs, tremor in the upper limbs, dysphagia and fatigue. Physical examination revealed mild dysarthria, dysdiadochokinesia, dysmetria, bilateral hypometric saccades and ataxic gait. Magnetic resonance imaging (MRI) of the brain showed cerebellar atrophy, and electromyography and neuroconductions confirmed axonal polyradiculoneuropathy. Molecular genetic testing showed expansion of one of the ATTCT pentanucleotide repeats, which confirmed the diagnosis of cerebellar ataxia type 10 (SCA10). Multidisciplinary management was initiated where physiatry started a neurological rehabilitation plan, pain management with neuromodulator and prescription of an assistive mobility device such as a walker. The patient improved her independence in activities of daily living: the Barthel index went from 45 points to 75 after 12 weeks in neurological rehabilitation. Conclusion. SCA10 was initially considered as a pure cerebellar ataxia associated with seizures; however, in recent years the identification of new families with this disorder has revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment. We describe here a case of late-onset SCA10 (over 50 years of age) that could be the first sporadic case reported in Colombia.

Ecografía neuromuscular en la diferenciación entre neuropatía porfírica desmielinizante y axonal / Neuromuscular ultrasound in the differentiation between demyelinating and axonal porphyric neuropathy

Introducción. Las porfirias son enfermedades hereditarias secundarias a mutación de genes que codifican para proteínas necesarias en el metabolismo de hemo, se presenta con una incidencia de 1:1700 y los ataques agudos sólo se presentan en 1% de estos, aún menos frecuente es la polineuropatía porfírica que clásicamente se ha descrito de características axonales, aunque se han reportado algunos casos de desmielinización primaria. Presentación de caso. Femenina de 26 años con antecedente de porfiria intermitente aguda quien presenta paresia distal en las 4 extremidades de predominio en miembros inferiores asociado a hipoestesia en bota y guante. Las neuroconducciones mostraban latencias prolongadas y disminución en las velocidades de conducción compatibles con desmielinización, la electromiografía evidenció denervación y reinervación. En la ecografía neuromuscular se encontraron nervios con área de corte transversal (CSA) normal o disminuido. Conclusión. El hallazgo de nervios con CSA normal o disminuido es poco probable en neuropatías desmielinizantes y compatible con degeneración axonal. La ecografía neuromuscular podría mejorar el rendimiento diagnostico de los estudios electrofisiológicos para diferencias polineuropatía primariamente axonal o desmielinizante.

Introduction. Porphyrias are hereditary diseases secondary to mutation of genes coding for proteins necessary for heme metabolism, occurring with an incidence of 1:1700 and acute attacks occur in only 1% of these, even less frequent is porphyric polyneuropathy which has been classically described as having axonal characteristics, although some cases of primary demyelination have been reported. Case presentation. A 26-year-old female with a history of acute intermittent porphyria presented with distal paresis in all 4 extremities, predominantly in the lower limbs, associated with hypoesthesia in the boot and glove. Neuroconductions showed prolonged latencies and decreased conduction velocities compatible with demyelination, electromyography showed denervation and reinnervation. Neuromuscular ultrasound showed nerves with normal or decreased cross-sectional area (CSA). Conclusion. The finding of nerves with normal or decreased CSA is unlikely in demyelinating neuropathies and compatible with axonal degeneration. Neuromuscular ultrasound could improve the diagnostic yield of electrophysiological studies for differences in primarily axonal or demyelinating polyneuropathy.

Peripheral neuropathy in COVID-19 is due to immune-mechanisms, pre-existing risk factors, anti-viral drugs, or bedding in the Intensive Care Unit / Neuropatia periférica na COVID-19 com mecanismos immunológicos, fatores de risco preexistentes, medicamentos antivirais e compressão dos nervos periféricos nos leitos da Unidade de Terapia Intensiva

ABSTRACT Background: This mini-review aims to summarize and discuss previous and recent advances in the clinical presentation, pathophysiology, diagnosis, treatment, and outcome of SARS-CoV-2-associated peripheral neuropathies. Methods: Literature review. Results: Altogether, 105 articles about SARS-CoV-2-associated neuropathy describing 261 patients were retrieved. Peripheral neuropathy in patients with COVID-19 is frequent and predominantly due to immune mechanisms or neurotoxic side effects of drugs used to treat the symptoms of COVID-19 and, to a lesser extent, due to the compression of peripheral nerves resulting from prolonged bedding in the Intensive Care Unit (ICU) and pre-existing risk factors such as diabetes. SARS-CoV-2 does not cause viral neuropathy. Neurotoxic drugs such as daptomycin, linezolid, lopinavir, ritonavir, hydro-chloroquine, cisatracurium, clindamycin, and glucocorticoids should be administered with caution and patients should be appropriately bedded in the ICU to prevent SARS-CoV-2-associated neuropathy. Patients with Guillain-Barré syndrome (GBS) benefit from immunoglobulins, plasma exchange, and steroids. Conclusions: Neuropathies of peripheral nerves in patients with COVID-19 are frequent and mostly result from immune mechanisms or neurotoxic side effects of drugs used to treat the symptoms of COVID-19 and, to a lesser extent, from the compression of peripheral nerves due to prolonged bedding on the ICU. SARS-CoV-2 does not cause infectious neuropathy.

RESUMO Introdução: A presente minirrevisão tem como objetivo resumir e discutir os avanços dos aspectos clínicos, fisiopatológicos, de diagnóstico, tratamento e evolução das neuropatias dos nervos periféricos associadas à COVID-19. Métodos: Revisão da literatura. Resultados: Foram avaliados 105 artigos sobre neuropatia associada à COVID-19. Nesses estudos, 261 pacientes apresentaram boa evolução. As neuropatias dos nervos periféricos em pacientes com COVID-19 são frequentes e se devem, principalmente, aos mecanismos immunológicos ou efeitos colaterais neurotóxicos dos medicamentos utilizados para o tratamento da COVID-19, a fatores de risco pré-existentes, como diabetes e, em menor parte, à compressão dos nervos periféricos nos leitos da UTI. A COVID-19 não causa neuropatia viral. Os medicamentos neurotóxicos, como daptomicina, linezolida, lopinavir, ritonavir, hidro-cloroquina, cisatracúrio, clindamicina e glicocorticoides devem ser administrados com cautela, e os pacientes deve ser adequadamente admitidos nos leitos da UTI para prevenir o desenvolvimento de neuropatia associada à COVID-19. Pacientes com síndrome de Guillain-Barré (GBS) se beneficiam de imunoglobulinas, plasmaférese e esteroides. Conclusões: As neuropatias dos nervos periféricos em pacientes com COVID-19 são raras e predominantemente devidas aos efeitos colaterais neurotóxicos das mecanismos immunológicos ou drogas utilizadas para o tratamento de COVID-19 e, em menor parte, devido à compressão dos nervos periféricos nos leitos da UTI. A COVID-19 não causa neuropatia infeciosa.

Probable first report of a motor deafferentation syndrome in the Paraguayan War / Provável primeiro relato de uma síndrome de desaferentação motora na Guerra do Paraguai

ABSTRACT The Paraguayan War ended 150 years ago. Back then, there were outbreaks of combatants' limb weakness and tingling related to "palustrian cachexia", not clearly funded at the time on nutritional deficiency, the use of native flora to feed troops, and alcoholism. We report a case of a soldier with ascending paralysis, mental confusion and finally tetraplegia with preserved oculomotricity. This would probably be a case of locked-in syndrome (LIS) due to Gayet-Wernicke's encephalopathy consequent to thiamine deficiency. The role of thiamine in the peripheral or central nervous system expression was shown decades later to be related to poor diet, or use of foods containing thiaminase or thiamine antagonists, worsened by the fact that the bodily stores of thiamine are restricted, and deficits may grow fast.

RESUMO A Guerra do Paraguai terminou há 150 anos. Houve surtos de fraqueza dos membros dos combatentes e parestesias relacionadas à "caquexia palustre", não claramente fundamentados na época sobre deficiência nutricional, o uso da flora nativa para alimentar as tropas e o alcoolismo. Referimo-nos a um caso de um militar com paralisia ascendente, confusão mental e finalmente tetraplegia com oculomotricidade preservada. Esse relato seria provavelmente devido a um caso de "síndrome do encarceramento" secundário à encefalopatia de Gayet-Wernicke consequente à deficiência de tiamina. O papel da tiamina na expressão periférica ou do SNC foi previsto décadas mais tarde em relação a uma dieta pobre, ou ao uso de alimentos contendo tiamina ou antagonistas da tiamina, agravado pelo fato de que as reservas corporais de tiamina são restritas, e os déficits podem se manifestar rapidamente.

Neuropatía Periférica en la enfermedad de Parkinson / Peripheral Neuropathy in Parkinsons disease

RESUMEN La enfermedad de Parkinson es una entidad neurodegenerativa con alteraciones principalmente extrapiramidales, del sistema nervioso autónomo y, en etapas finales, alteraciones cognitivas y neuropsiquiátricas. Desde 1976 se reconocen además síntomas neurosensoriales dependientes del sistema nervioso periférico, presentes en casi la mitad de los pacientes y que preceden incluso a los síntomas motores. Los síntomas sensitivos fueron inicialmente atribuidos a distonías o a niveles indebidos de levodopa en ausencia de medicación apropiada; sin embargo, estudios recientes sugieren una etiología intrínseca a la propia enfermedad. Se reconocen tres formas de presentación: polineuropatía crónica (la más común), aguda y subaguda. La clínica de la polineuropatía es concurrente con la de la enfermedad de Parkinson y el diagnóstico es básicamente clínico, aun cuando se cuenta con el apoyo de la electromiografía y de la velocidad de conducción nerviosa, cuya normalidad no descartaría a esta entidad. El manejo actual está basado en la presunción etiológica, por lo que la reposición de vitaminas como la B12, B1 y folatos puede considerarse como parte del mismo. La etiología, el pronóstico y la fisiopatología son aún temas de debate y requieren, por lo tanto, más investigaciones.

SUMMARY Parkinson´s disease is a neurodegenerative entity with predominant extrapyramidal and dysautonomic features and, in the final stages, cognitive and neuropsychiatric manifestations. Since 1976, the involvement of the peripheric nervous system has been recognized, mainly through neurosensorial symptoms affecting almost half of the Parkinson patients, even before the onset of motor symptoms. Initially, these symptoms were attributed to dystonia or the use of levodopa in the absence od medications; however, recent studies suggest an intrinsic etiology in idiopathic Parkinson´s disease. Chronic (the most frequently described), subacute and acute polyneuropathy are the main clinical forms. The sensory symptoms coexist with those of Parkinson´s disease. The diagnosis is essentially based on a clinical examination supported by electromyography and tests of neuro-conduction velocity whose normality does not rule out this entity, however. Its management depends on the etiological assumptions, and includes the eventual use of vitamin B12, B1 and folates replacement therapy. The etiology, the prognosis and the physiopathology are still topics of debate whose clarification requires further research.

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.

Características epidemiológicas y factores de riesgo de los pacientes adultos con Debilidad Adquirida en la Unidad de Cuidados Intensivos / Epidemiological Characteristics and Risk Factors of Adult Patients with Intensive Care Unit-Acquired Weakness

Introducción: La debilidad adquirida en la unidad de cuidados intensivos (DAUCI) compromete tanto a los músculos de las extremidades como el diafragma, asociándose con variables de resultado negativas. El objetivo del estudio fue describir las características epidemiológicas e incidencia de DAUCI en adultos con requerimiento de ventilación mecánica invasiva (VMI) mayor a 72 horas en un Hospital General de Agudos de la Ciudad de Buenos Aires. Método: Estudio de cohorte retrospectivo. Se incluyeron pacientes adultos con requerimiento de VMI por más de 72 horas en la Unidad de Cuidados Intensivos (UCI). Las principales variables de interés registradas fueron: incidencia de DAUCI, días de VMI, estadía y mortalidad tanto en UCI como hospitalaria. Resultados: Se incluyeron 262 pacientes de los cuales 87 (33,21%) intercurrieron con debilidad. No se establecieron diferencias estadísticamente significativas entre los pacientes con y sin DAUCI para las variables edad, motivo de ingreso a VMI, número de antecedentes personales y mortalidad tanto en UCI como hospitalaria. En el presente estudio se establecieron como factores de riesgo independiente al sexo femenino (OR: 1,98; IC 95%: 1,02 ­3,81), delirio (OR 8,4; IC 95%: 4,38-16,11) y días de VMI (OR: 1,05; IC 95%: 1,02-1,08). Conclusiones: El presente estudio nos permitió conocer la incidencia y las características epidemiológicas de los pacientes que presentan DAUCI en una UCI del sistema público de salud de Argentina. Se observó que el sexo femenino, los días de VMI y el delirio en UCI fueron factores de riesgo independiente para DAUCI.

Déficit motor distal como una variante del Síndrome de Guillain-Barré: un reporte de caso / Distal motor deficit as a variant of Guillain-Barré Syndrome: case report

RESUMEN Existen variantes del síndrome de Guillain-Barre (SGB) de muy poca presentación como la debilidad distal de extremidades del SGB (DL-GBS), que muestra una debilidad limitada a las regiones distales de las extremidades (muñecas, manos, tobillos y dedos de los pies) con la fuerza muscular conservada en las regiones proximales durante el curso de la enfermedad. Se reporta el caso de una mujer de 26 años que dos semanas antes del ingreso, presenta leve déficit motor distal de las extremidades superiores y posteriormente las extremidades inferiores, asociado a diarrea. Al examen: leve cuadriparesia distal, sin hipo/arreflexia y Lasegue positivo. Los estudios de laboratorio mostraron: anemia ferropénica, las pruebas inmunológicas para virus comúnmente asociados, marcadores tumorales, pruebas toxicológicas y dosaje de Vitamina B12 fueron normales. Así mismo, el examen de líquido cefalorraquídeo no mostró alteraciones. Los estudios de RMN cerebral y columna cervical fueron normales. Los estudios de electromiografía y velocidad de conducción nerviosa (EMG-VCN) al décimo día de la enfermedad mostro una neuropatía axonal motora aguda sin denervación. Por las características benignas de su presentación y evolución hace suponer que se trata de una variante leve del SGB (DL-SGB), que difiere de las variantes normales de AMAN-SGB que generalmente son graves y de pobre pronóstico.

ABSTRACT There are some variants of Guillain-Barré syndrome (GBS) that are so unusual, such as distal limb weakness (DL-GBS), which features weakness restricted to the distal area of limbs (wrists, hands, ankles, and toes) with preserved muscle strength in the proximal areas during the course of the disease. We report the case of a 26 year-old woman, who at two weeks before admission showed mild distal motor deficit affecting the arms and afterwards her legs, and this was associated to diarrheal disease. Physical examination showed mild distal quadriparesis, with no hyporeflexia/ areflexia, and a positive Lasègue sign. Laboratory studies showed ferropenic anemia, immunological tests for commonly associated viruses, tumor markers and vitamin B12 levels were all normal. Also, CSF examination showed no alterations. Cerebral and cervical spine MRI studies were normal. Electromyography and nerve conduction velocity studies at the 10th day of the disease showed acute motor axonal neuropathy with no denervation. The benign form of presentation and progression led us to think this case is a mild GBS variant (DL-GBS), different from the usual AMAN-GBS variants, which are usually severe and have a poor prognosis.

Polineuropatia desmielinizante como manifestação inicial isolada de hanseníase: relato de caso / Demyelinating polyneuropathy as an isolated initial manifestation of leprosy: case report

RESUMO: Modelo do Estudo: Relato de caso. Importância do problema: No mundo, mais de três milhões de pessoas estão vivendo com deficiência física devido à hanseníase. O Brasil é o segundo país com o maior número de casos novos registrados.A magnitude e o alto risco de incapacidade mantêm a doença como problema de saúde pública. O diagnóstico de hanseníase em geral é simples. Porém, quadros com ausência de lesões cutâneas características, somente com alterações neurais, representam um desafio para o diagnóstico diferencial com outras doenças neurológicas. Comentários: Relatamos o caso de um paciente encaminhado ao serviço de neurologia com história clínica e eletroneuromiografia compatíveis com polineuropatia desmielinizante, sem qualquer lesão cutânea ao exame de admissão. O raciocínio clínico inicial foi direcionado para o diagnóstico das polineuropatias desmielinizantes inflamatórias adquiridas como Polineuropatia Desmielinizante Inflamatória Crônica (CIDP) e suas variantes. No entanto, após anamnese e exame físico detalhados, chamou a atenção a ausência do componente atáxico e a presença predominante de alterações sensitivas de fibra fina, espessamento de nervo e importante fator epidemiológico para hanseníase, motivando a suspeita e a in-vestigação desta enfermidade por meio da biópsia de nervo que foi sugestiva de hanseníase. Após três meses, em novo exame do paciente para biopsiar áreas de anestesia para reforçar o diagnóstico, observou-se o surgimento de extensas lesões levemente hipocrômicas no tronco e membros inferiores, cuja biópsia definiu o diagnóstico de hanseníase. (AU)

ABSTRACT: Study: Case report. Importance: Worldwide over three million people are living with disabilities due to leprosy. Brazil is the second country with the highest number of new cases registered. The magnitude and high risk of disability make the disease a public health problem. The diagnosis of leprosy can be simple. However, in the absence of skin lesions and with many possibilities of neurological impairment, diagnosis can become a challenge. Comments: We report the case of a patient referred to the neurology service with a clinical history and electrophysiological tests compatible with demyelinating polyneuropathy, without any skin lesion at admission examination. The initial clinical research was directed to the diagnosis of acquired inflammatory demyelinating polyneuropathies such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)and its variants. However, after anamnesis and detailed physical examination, the absence of the ataxic component and the predominant presence of sensory alterations of fine fiber, nerve thickening and important epidemiological factor for leprosy,led to the suspicion and investigation of this disease by nerve biopsy that was suggestive of leprosy. After three months, in a new patient examination "to perform a biopsy in areas of anesthesia" to reinforce the diagnosis, there was the appearance of extensive slightly hypochromic lesions in the trunk and lower limbs, whose biopsy defined the diagnosis of leprosy.(AU)

Porfiria intermitente aguda: reporte de caso / Acute intermittent porphyria: A case report

El término 'porfiria' proviene del griego 'porphyra' y alude a un grupo heterogéneo de trastornos metabólicos causados por una deficiencia enzimática en la biosíntesis del grupo hemo. La causa de la porfiria intermitente aguda es la deficiencia de la enzima deaminasa del porfobilinógeno. Se presenta el caso de una mujer de 40 años que presentó dolor abdominal de 10 días de evolución, trastorno hidroelectrolítico grave debido a hiponatremia e hipopotasemia, taquicardia e hipertensión arterial sistémica persistentes, por lo cual fue sometida a una laparotomía en la que no se encontró ninguna afección de origen quirúrgico, A los siete días del examen inicial, la paciente desarrolló cuadriparesia flácida aguda y presentó una crisis convulsiva tónico-clónica generalizada. Los estudios neurofisiológicos evidenciaron una polineuropatía axonal mixta, y los valores de porfobilinógeno y porfirinas en orina eran elevados. Tras diagnosticarse porfiria intermitente aguda, esta se trató con hemina, lo que estabilizó los signos clínicos y normalizó el porfobilinógeno. La prevalencia de esta enfermedad es de 1 en 2.000 personas. Tiene un patrón de herencia autosómico dominante y se manifiesta principalmente en mujeres con edades entre los 20 y los 40 años. La enfermedad cursa con síntomas neurológicos y viscerales, y se trata con la administración de hemina y dextrosa, evitando las soluciones hipotónicas por el riesgo de exacerbar la hiponatremia.

The term 'porphyria' comes from the Greek 'porphyra'. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. A 40-year-old woman presented with abdominal pain for ten days (which required laparotomy that evidenced no surgical pathology), severe hydroelectrolytic disorder due to hyponatremia and resistant hypokalemia, persistent tachycardia and hypertension. Seven days later, she developed acute flabby quadriparesis and presented a single generalized tonic-clonic convulsive crisis. Neurophysiological studies supported mixed axonal polyneuropathy and urine results of porphobilinogen and porphyrins were elevated. After acute intermittent porphyria was diagnosed, hemin was administered, which stabilized the patient's clinical signs and normalized the porphobilinogen. The prevalence of this entity is 1 in 2,000 people. It is an autosomal dominant disease, which affects mainly women between 20 and 40 years of age. This entity manifests with neurological and visceral symptoms. Management consists of hematin and dextrose administration avoiding hypotonic solutions because of the risk of exacerbating hyponatremia.