Enfoque práctico en el diagnóstico de los errores congénitos del metabolismo / Practical approach to the diagnosis of inherited metabolic diseases

Resumen Los errores congénitos del metabolismo constituyen un grupo creciente de enfermedades poco frecuentes con habitual impacto neurológico. Heterogéneas en el aspecto clínico y bioquímico, su diagnóstico y terapéutica son dificultosos. Los avances en su conocimiento, en los métodos diagnósticos y en sus tratamientos, ponen de relevancia lo importante de un diagnóstico oportuno, puerta del acceso a la inter vención médica temprana. Es muy relevante la sospecha del neuropediatra ante diferentes situaciones clínicas. El presente artículo pretende ser un aporte práctico para facilitar su reconocimiento.

Abstract Inborn errors of metabolism constitute a growing group of rare diseases with usual neurological impact. Hete-rogeneous in clinical and biochemical aspects, its diagnosis and treatment are difficult. Advances in its knowledge, in diagnostic methods and in its treatments, highlight the importance of a timely diagnosis, the gateway to access to early medical intervention. The neuropediatrician's suspicion in different clini cal situations is very relevant. This article aims to be a practical contribution to facilitate their recognition.

Características epizootiológicas da infecção natural pelo vírus da cinomose canina em Belo Horizonte / Natural canine distemper virus infection epizootiology characteristics in Belo Horizonte

O perfil epizootiológico da cinomose canina em Belo Horizonte é desatualizado e não alberga algumas características relevantes. Uma análise recente da distribuição do vírus em relação às características do hospedeiro e do meio ambiente associada aos principais sinais clínicos e achados laboratoriais são importantes para se adotarem medidas estratégicas para o controle da enfermidade. Objetivou-se, assim, determinar as características epizootiológicas da infecção pelo vírus da cinomose canina associada à variedade de sinais clínico-neurológicos e laboratoriais em Belo Horizonte, auxiliando no diagnóstico precoce da infecção e na diminuição das taxas de morbidade e mortalidade da doença. A avaliação do perfil epizootiológico de 90 cães revelou que a doença é mais frequente em animais adultos (um a seis anos de idade) e que não receberam vacinas conforme recomendado pelos protocolos. Os sinais clínicos extraneurais e neurais foram variados, com predomínio para manifestações gastrentérica e respiratória, mioclonia e déficit motor, respectivamente. O exame do fluido cérebro-espinhal demonstrou predomínio de proteinorraquia associada à pleocitose linfocítica. O teste de imunocromatografia para pesquisa de antígeno com amostras do fluido cerebroespinhal foi eficaz para identificar a doença em pacientes com sinais neurológicos, diferentemente das amostras do swab conjuntival, que não devem ser utilizadas.(AU)

The epizootiology profile of canine distemper in Belo Horizonte is outdated and does not harbor some important characteristics. A recent analysis of the virus distribution in relation to host and environmental characteristics associated with the main clinical signs and laboratory findings are important for adopting strategic measures to control the disease. The aim of this study was to determine the epizootiology characteristics of canine distemper virus infection associated with a variety of clinical and neurologic signs and laboratory findings in Belo Horizonte, helping to detect early infection and reduce morbidity and mortality rates. The evaluation of the epizootiology profile of 90 dogs revealed that the disease is more frequent in adult animals (1-6 years of age) and did not receive vaccines as recommended by the protocols. Extra neural and neural clinical signs were varied, with predominance for gastrointestinal and respiratory manifestations and myoclonus and motor deficit, respectively. Examination of the cerebrospinal fluid of 16 dogs showed a predominance of increase protein associated with lymphocytic pleocytosis. The immunochromatography test for antigen screening with samples of cerebrospinal fluid in 76 animals with neurological signs was effective in identifying the disease, unlike conjunctival swab samples, which should not be used.(AU)

Riesgos prenatales, perinatales y neonatales asociados a signos neurológicos blandos / Prenatal, perinatal and neonatal risks associated with soft neurological signs

Introducción: Los signos neurológicos blandos se han asociado con dificultades motoras, alteraciones comportamentales menores e incluso como factores de vulnerabilidad para la aparición de afecciones como, esquizofrenia, trastorno de déficit de atención e hiperactividad, trastorno disocial y episodios psicóticos. Aunque la investigación sobre los signos ha venido aumentando, no se tiene claridad sobre qué puede predisponer su aparición. Objetivo: Describir la asociación entre factores de riesgo prenatales, perinatales y neonatales y la aparición de los signos neurológicos blandos en niños con estos factores riesgo y en niños sin ellos. Métodos: Estudio de tipo descriptivo comparativo, de corte transversal, con diseño no experimental. La población en estudio se conformó por 550 niños y niñas, con edades entre seis y ocho años organizados. en cuatro grupos: los que presentaban riesgos prenatales, perinatales, neonatales, y el grupo que no presentaba ningún riesgo. Las aplicaciones se llevaron a cabo durante el primer semestre de 2017. Los datos se tomaron de las historias clínicas y los. signos neurológicos blandos se evaluaron a través del apartado de la Evaluación Neuropsicológica Infantil. Resultados: La mayoría de los signos neurológicos blandos presentaron diferencias significativas y valores altos en la comparación de los rendimientos en cada uno de los grupos con riesgo. Conclusiones: la presencia de riesgos prenatales, perinatales y neonatales producen una serie de alteraciones en el desarrollo del niño que se van acumulando y pueden estar asociados con la aparición de los signos neurológicos blandos(AU)

Introduction: The soft neurological signs have been associated with motor difficulties, lower behavioural alterations and even with vulnerability factors for the appearance of conditions such as schizophrenia, attention deficit disorder and hyperactivity, disocial disorder and psychotic episodes. Although research on the signs has been increasing, it is not clear what may predispose their appearance. Objective: To describe the association between prenatal, perinatal and neonatal risk factors and the appearance of the soft neurological signs in children with these risk factors and in children without them. Methods: Descriptive, comparative, cross-sectional non-experimental design´s study. The study´s population was formed by 550 boys and girls between the ages of six and eight years organized in four groups: with prenatal risks, with perinatal risks, with neonatal risks, and the group that did not present any risks. The tests were carried out during the first semester of 2017. The data were taken from the medical records and the soft neurological signs were evaluated through the item called Neuropsychological Assessment of Children. Results: Most of the soft neurological signs showed significant differences and high values in the performance comparison in each of the groups with risks. Conclusions: The presence of prenatal, perinatal and neonatal risks produce a series of alterations in the development of the child that are accumulated and may be associated with the appearance of the soft neurological signs(AU)

Molecular identification of Ehrlichia sp. in a beef cattle from Brazilian Cerrado - case report / Identificação molecular de Ehrlichia sp em um bovino do Cerrado brasileiro - relato de caso

Ehrlichia infections in cattle are frequent in Africa but have also been reported in Brazil and North America. This paper reports natural infection by Ehrlichia sp. associated with Babesia bigemina and Anaplasma marginale in a calf in the municipality of Campo Grande, state of Mato Grosso do Sul, Brazil, presenting polioencephalomalacia. The molecular evidence, based on a fragment of the dsb gene, indicates a species of Ehrlichia genetically related to Ehrlichia canis and other species of the genus found in the tick Rhipicephalus (Boophilus) microplus and a calf from Brazil (99 to 100% identity). It was not possible to associate the clinical signs with Ehrlichia infection due to co-infections and histological evidence of another disease. However, the circulation of the bacteria in bovines in Brazilian Cerrado was confirmed and more attention should be given to clinical suspicion of tick-borne pathogens in cattle to clarify the pathogenic potential of Ehrlichia sp.(AU)

Infecções por Ehrlichia em bovinos são frequentes na África, mas também foram relatadas no Brasil e na América do Norte. Este artigo relata uma infecção natural por Ehrlichia sp. associado a Babesia bigemina e Anaplasma marginale em um bezerro, no município de Campo Grande, Mato Grosso do Sul, Brasil, o qual apresentava polioencefalomalácia. A evidência molecular, baseada em um fragmento do gene dsb, indica uma espécie de Ehrlichia geneticamente relacionada a Ehrlichia canis e outras espécies do gênero encontradas no carrapato Rhipicephalus (Boophilus) microplus e em um bezerro do Brasil (99 a 100% de identidade). Não foi possível associar os sinais clínicos à infecção por Ehrlichia devido a coinfecções e evidências histológicas de outra doença. No entanto, a circulação da bactéria em bovinos no Cerrado brasileiro foi confirmada, e mais atenção deve ser dada à suspeita clínica de patógenos transmitidos por carrapatos em bovinos para esclarecer o potencial patogênico de Ehrlichia sp.(AU)

¿Son los signos neurológicos blandos relevantes en la esquizofrenia?: Una revisión de la evidencia actual / Are soft neurological signs relevant in schizophrenia?: A review of current evidence

La esquizofrenia es un trastorno que incluye múltiples signos y síntomas en diferentes áreas (positiva, negativa, afectiva, motora, cognitiva, entre otras). De ellas, la dimensión motora ha adquirido notable importancia durante las últimas décadas. En tal contexto, los llamados signos neurológicos blandos (NSS) son de especial interés como posible expresión endofenotípica de la esquizofrenia, debido a su alta prevalencia en pacientes con este trastorno, y en sus familiares de primer grado. Estas alteraciones neurológicas están asociadas con síntomas negativos y de desorganización conductual, así como con deterioro neurocognitivo y pobre rendimiento funcional. Además, los NSS permitirían diferenciar distintos subgrupos de pacientes esquizofrénicos, con requerimientos específicos en cuanto a tratamiento, seguimiento, rehabilitación social y neurocognitiva. Asimismo, en estudios de neuroimágenes se han puesto en evidencia una gran variedad de alteraciones estructurales y funcionales, relacionadas con la heterogeneidad de los NSS. El presente artículo es una revisión actualizada de la literatura respecto al tema, intentando presentar una visión general de los estudios más representativos.

Schizophrenia is a disorder that includes multiple signs and symptoms in different areas or domains (positive, negative, affective, motor, cognitive, among others). From them, the motor dimension has acquired remarkable importance during the last decades. Among these motor disorders, the so-called neurological soft signs (NSS) are of particular interest, as they have been identified as possible endophenotypic expressions of schizophrenia, due to their high prevalence in patients with this disorder, and in their closest relatives. These neurological abnormalities are associated with negative symptoms and behavioral disorganization, besides neurocognitive impairment and poor functional performance. In addition, NSS would allow a differentiation between several subgroups of schizophrenic patients, with specific features regarding treatment, follow-up, social and neurocognitive rehabilitation. Likewise, neuroimaging studies have revealed a great variety of structural and functional alterations linked to the heterogeneity of NSS. This article is an updated review of the literature on the topic in an attempt to provide a general perspective of the most representative studies.

Occurrence of antibodies against Neospora caninum and/or Toxoplasma gondii in dogs with neurological signs / Ocorrência de anticorpos contra Neospora caninum e/ou Toxoplasma gondii em cães com sinais neurológicos

This study aimed to evaluate occurrences of antibodies against Neospora caninum and Toxoplasma gondii in dogs with neurological signs. Blood samples from 147 dogs were collected: 127 from owned dogs (attended at the Veterinary Teaching Hospital of the Federal University of Paraná (HV-UFPR) and at private veterinary clinics in the city of Curitiba), and 20 from stray dogs found in Curitiba's metropolitan region. The dogs presented one or more of the following neurological signs: seizures, paresis or paralysis, ataxia, behavioral abnormalities, sensory and somatic disorders and chorioretinitis. The samples were analyzed by means of the indirect fluorescent antibody test (IFAT), at a cutoff dilution of 1:50. Out of the 147 samples obtained, 17 (11.56 percent) were seropositive for N. caninum, 31 (21.08 percent) for T. gondii and four (2.72 percent) for both protozoa. Serum titration on the positive animals showed that 54.83 percent (17/31) and 41.18 percent (7/17) had titers > 1:200 against T. gondii and N. caninum, respectively. A significant difference in seropositivity for T. gondii (P = 0.021; OR = 2.87; CI = 1.1 > 2.8 > 7.4) was observed between owned dogs (18.11 percent) and stray dogs (40 percent). Inclusion of serological tests for neosporosis and toxoplasmosis is recommended in diagnosing neurological diseases in dogs.

Neste estudo objetivou-se verificar a ocorrência de anticorpos contra Neospora caninum e/ou Toxoplasma gondii em cães com sinais neurológicos. Foram coletadas 147 amostras de sangue, sendo 127 de animais domiciliados (atendidos no Hospital Veterinário da Universidade Federal do Paraná (HV-UFPR) e em clínicas veterinárias da cidade de Curitiba) e 20 de cães errantes da região metropolitana de Curitiba. Os cães apresentavam um ou mais dos seguintes sinais neurológicos: convulsão, paresia ou paralisia, ataxia, alterações de comportamento, alterações sensoriais somáticas e coriorretinite. As amostras foram analisadas pela reação de imunofluorescência indireta (RIFI), na diluição de corte 1:50. Das 147 amostras obtidas, 17 (11,56 por cento) foram positivas para N. caninum, 31 (21,08 por cento) foram positivas para T. gondii e quatro (2,72 por cento) foram reagentes para ambos os protozoários. Na titulação dos animais positivos, 54,83 por cento (17/31) e 41,18 por cento (07/17) apresentaram títulos >1:200 contra T. gondii e N. caninum, respectivamente. Diferença significativa (P = 0,021, OR = 2,87, IC = 1,1 > 2,8 > 7,4) foi observada para soropositividade ao T. gondii entre cães domiciliados (18,11 por cento) e errantes (40 por cento). Sugere-se a inclusão dos exames sorológicos de neosporose e toxoplasmose no diagnóstico de doença neurológica em cães.

Meningoencephalitis in a horse associated with equine herpesvirus 1 / Meningoencefalite em um cavalo associado com herpesvírus eqüino 1

Um garanhão da raça Brasileiro de Hipismo, de 12 anos de idade, apresentou um quadro neurológico complexo, que se assemelhava, em vários aspectos, aos sinais neurológicos causados pelo herpesvírus eqüino 1 (EHV-1), variando desde uma suave ataxia à completa paralisia dos posteriores. O animal morreu com menos de 12 horas após o início dos sinais nervosos. O diagnóstico de EHV-1 foi feito pela detecção do DNA viral no sistema nervoso central por meio da reação em cadeia da polimerase (PCR) e posterior sequenciamento.

Relationships between Soft Neurological Signs and Therapeutic Effects of Antipsychotic Drugs in Patients with Schizophrenia / 대한정신약물학회지

Clinical studies have shown various relationships between soft neurological signs and therapeutic effects of antipsychotic drugs in patients with schizophrenia. This study was purposed to compare soft neurological signs in patients before and after administration of antipsychotic drugs and thus to confirm the relationships between soft neurological signs and therapeutic effects of antipsychotic drugs in patients with schizophrenia. Twenty-five schizophrenic patients were treated with antipsychotic drugs for 8 weeks after at least 7 days of drug-free period. The soft neurological signs were assessed by using the Neurological Evaluation Scale-Korean Version(NES-K). The baseline assessment was performed just before the antipsychotic drug trial and following assessments were repeated every 4 weeks until the end of 8-week antipsychotic drug treatment. The therapeutic effects were assessed by using Positive and Negative Syndrome Scale(PANSS) at baseline just before antipsychotic drug trial, and every 4 weeks until the end of 8-week antipsychotic drug treatment. Total scores of NES-K, scores of its subcategories including sensory integration, motor coordination, sequencing of complex motor acts, and other items were shown to decrease significantly 8 weeks after initiation of antipsychotic drugs. Among those above scores, both the changes of total scores of NES-K and other items were significantly correlated with the changes of negative scores, general psychopathology scores, and total scores of PANSS. Thirteen patients who were categorized as responders, showed at least 20% decrease in PANSS total score. The responders showed more decrement(p<0.05) in total scores of NES-K and scores of sequencing of complex motor acts than twelve nonresponders. These results showed that the scores of NES-K were significantly correlated with the improvement of PANSS score. It is therefore reasonable to suggest that the changes of NES-K scores were significantly correlated with the therapeutic effects of antipsychotic drugs. The changes of soft neurological signs in patients with schizophrenia may be associated with the antipsychotic drug effect.