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1.
Mitochondrion ; 61: 31-43, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34536563

RESUMO

Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple genes can affect mitochondrial function, there is considerable clinical variability and a poor correlation between genotype and phenotype. Herein we assessed mitochondrial function in peripheral blood mononuclear cells (PBMCs) and platelets from volunteers without known metabolic pathology and patients with mitochondrial disease. Oxygen consumption rates were evaluated and respiratory parameters indicative of mitochondrial function were obtained. A negative correlation between age and respiratory parameters of PBMCs from control individuals was observed. Surprisingly, respiratory parameters of PBMCs normalized by cell number were similar in patients and young controls. Considering possible compensatory mechanisms, mtDNA copy number in PBMCs was quantified and an increase was found in patients with respect to controls. Hence, respiratory parameters normalized by mtDNA copy number were determined, and in these conditions a decrease in maximum respiration rate and spare respiratory capacity was observed in patients relative to control individuals. In platelets no decay was seen in mitochondrial function with age, while a reduction in basal, ATP-independent and ATP-dependent respiration normalized by cell number was detected in patients compared to control subjects. In summary, our results offer promising perspectives regarding the assessment of mitochondrial function in blood cells for the diagnosis of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsies, and for following disease progression and response to treatments.

2.
Rev. méd. Urug ; 37(3): e37303, set. 2021. tab, graf
Artigo em Espanhol | LILACS, BNUY | ID: biblio-1341551

RESUMO

Resumen: Introducción: la parálisis cerebral (PC) es la causa más frecuente de discapacidad motriz en niños y adolescentes. En el 85% de los casos, la manifestación motora predominante es la espasticidad. Las inyecciones de toxina botulínica tipo A (TB-A) se han usado para reducir la espasticidad en niños con PC. No existen investigaciones a nivel nacional que comprueben si los resultados son comparables a los reportados en la literatura. Objetivo: determinar el efecto del tratamiento con TB-A en el tríceps sural en conjunto con la rehabilitación física en niños con PC espástica durante los años 2017-2018 en el Centro de Rehabilitación Infantil Teletón, Uruguay. Métodos: se realizó un estudio descriptivo, retrospectivo, de cohorte histórica única con seguimiento longitudinal, mediante la revisión de historias clínicas de los pacientes con PC con marcha independiente o asistida que recibieron tratamiento con TB-A para el tratamiento de la espasticidad del tríceps sural durante el período 2017-2018. Resultados: se analizaron 40 procedimientos de inyección de TB-A. Se observó una buena respuesta al mes y a los 3 meses del tratamiento con TB-A, con mejoría del ángulo de dorsiflexión del pie con la rodilla en flexión y en extensión, mejoría del puntaje de la escala de espasticidad de Ashworth modificada y, en el 95% de los procedimientos, de la percepción subjetiva de los padres. Se observó una disminución del efecto hacia los 6 meses de la aplicación. Conclusión: la aplicación de TB-A en el Centro Teletón muestra resultados positivos, comparables con los reportados en la bibliografía internacional.


Abstract: Introduction: cerebral palsy (CP) is the most common source of motor disability in children and adolescents. In 85% of cases, the prevailing motor manifestation is spasticity. Botulinum toxin Type A injections (TB-A) have been used to reduce spasticity in children with cerebral palsy (CP). There are no studies at the national level that show whether the results are comparable to those reported in literature. Objective: to determine the effect of TB-A therapy in the triceps surae along with the physical rehabilitation in children with spastic cerebral palsy (CP) during 2017-2018 at the Teleton Children´s Rehabilitation Center, Uruguay. Method: retrospective, descriptive study of a single cohort with a longitudinal follow-up was conducted, through the review of medical records belonging to patients with CP with independent or assisted gait, who received TB-A therapy to treat sural triceps spasticity during 2017-2018. Results: 40 TB-A injection procedures were analysed. A good response was observed one month and three months after being treated with TB-A, evidencing improvement in the dorsiflexion angle between the foot and the knee in flexion and extension, improvement on the modified Ashworth spasticity scale score and, in 95% of procedures, the subjective perception of parents. The effect was observed to decrease towards 6 months after the procedure. Conclusion: application of TB-A at the Teletón Center shows positive results, comparable to those reported by international blibliography.


Resumo: Introdução: a paralisia cerebral (PC) é a causa mais freqüente de deficiência motora em crianças e adolescentes. Em 85% dos casos, a manifestação motora predominante é a espasticidade. As injeções de toxina botulínica tipo A (TB-A) têm sido usadas para reduzir a espasticidade em crianças com PC. Não há pesquisas nacionais que verifiquem se os resultados são comparáveis aos relatados na literatura. Objetivo: determinar o efeito do tratamento da TB-A no tríceps sural em conjunto com a reabilitação física em crianças com PC espástica durante os anos 2017-2018 no Centro de Rehabilitación Infantil Teletón, Uruguai. Métodos: estudo descritivo, retrospectivo, com coorte histórica única com acompanhamento longitudinal, realizado por meio da revisão de prontuários de pacientes com PC com deambulação independente ou assistida que receberam tratamento com TB-A para o tratamento da espasticidade do tríceps sural, no período 2017-2018. Resultados: 40 procedimentos de injeção de TB-A foram analisados. Observou-se boa resposta um mês e três meses após o tratamento com TB-A, com melhora no ângulo de dorsiflexão do pé com o joelho em flexão e extensão, melhora no escore da escala de espasticidade de Ashworth modificada e, em 95% dos procedimentos, a partir da percepção subjetiva dos pais. Uma diminuição no efeito foi observada 6 meses após a aplicação. Conclusão: a aplicação do TB-A no Centro de Rehabilitación Infantil Teletón apresentou resultados positivos, comparáveis aos relatados na literatura internacional.


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Paralisia Cerebral/terapia , Toxinas Botulínicas Tipo A/uso terapêutico , Espasticidade Muscular
3.
Arch. pediatr. Urug ; 91(6): 348-358, 2020. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1142217

RESUMO

Resumen: Introducción: la deficiencia de vitamina B12 es infrecuente en la edad pediátrica. Puede producir síntomas neurológicos y hematológicos de diferente severidad. Si no se diagnostica y trata oportunamente, puede determinar secuelas neurológicas permanentes. Objetivos: presentar una serie de casos clínicos de encefalopatía secundaria a déficit materno de vitamina B12, discutir su potencial severidad y resaltar la importancia de las medidas de prevención. Metodología: estudio observacional basado en la revisión de las historias clínicas de lactantes con criterios clínicos y de laboratorio compatibles con encefalopatía por deficiencia de vitamina B12 materna. Resultados: se incluyeron cuatro casos clínicos, con edades entre 7 y 15 meses, que presentaron una encefalopatía subaguda por deficiencia de vitamina B12 secundaria a déficit materno luego de un período libre de síntomas, con rechazo del alimento, detención del crecimiento, adelgazamiento, irritabilidad, apatía, regresión del desarrollo, movimientos extrapiramidales y desaceleración de la velocidad del crecimiento del perímetro craneano. Los exámenes complementarios revelaron anemia megaloblástica, niveles bajos de vitamina B12 en el suero, hiperhomocisteinemia y aciduria metilmalónica. Se realizó tratamiento con vitamina B12 con buena evolución posterior. Discusión: la deficiencia de vitamina B12 debe considerarse en el diagnóstico diferencial de lactantes con regresión del desarrollo, movimientos involuntarios de inicio agudo o subagudo, convulsiones y apatía, especialmente si se asocian a anemia megaloblástica. Dado que la sintomatología es relativamente inespecífica, se requiere un alto grado de sospecha para realizar el diagnóstico precoz. El tratamiento es sencillo y eficaz y, de ser precoz, puede prevenir el daño cerebral permanente o la muerte.


Summary: Introduction: cobalamin or vitamin B12 deficiency is unusual in childhood. It may cause neurologic and hematologic symptoms of diverse severity. If not diagnosed and treated on time, it can lead to a severe clinical case of permanent neurological sequelae. The purpose of this study is to report four clinical cases of infants with subacute encephalopathy due to vitamin B12 deficiency after a maternal deficit, discuss its potential severity and emphasize the importance of preventive measures. Methods: observational study based on a review of clinical records of infants that showed clinical and laboratory criteria compatible with encephalopathy secondary to maternal vitamin B12 deficiency. Results: four infants between 7 and 15 months of age were included. They were diagnosed with vitamin B12 deficiency secondary to a maternal deficit. Clinically, they had had a symptom-free period followed by rejection of food, growth arrest, failure to thrive, irritability, apathy, regression of development, extrapyramidal movements and deceleration of cranial perimeter growth. They showed megaloblastic anemia, low serum B12 vitamin levels, hyperhomocysteinemia, and methylmalonic aciduria. They were treated with parenteral B12 vitamin and showed a favorable evolution. Discussion: vitamin B12 deficiency should always be analyzed in the differential diagnosis of infants with developmental regression, involuntary acute onset movements, seizures and apathy, especially associated with megaloblastic anemia. Due to its fairly unspecific clinical features, it high levels of suspicion and an early diagnosis are required. Treatment is simple and effective and can prevent permanent brain damage if started early.


Resumo: Introdução: a deficiência de vitamina B12 é pouco frequente na idade pediátrica. Pode produzir sintomas neurológicos e hematológicos de diferentes níveis de gravidade. Se não for diagnosticada e tratada prontamente, pode determinar sequelas neurológicas permanentes. Objetivos: apresentar uma série de casos clínicos de encefalopatia devida à deficiência materna de vitamina B12, discutir sua potencial gravidade e destacar a importância de medidas preventivas. Metodologia: estudo observacional baseado na revisão de prontuários de lactentes com critérios clínicos e laboratoriais compatíveis com encefalopatia por deficiência materna de vitamina B12. Resultados: foram incluídos 4 casos clínicos, com idades entre 7 e 15 meses, que apresentaram encefalopatia subaguda por deficiência de vitamina B12 devida à deficiência materna após período livre de sintomas, com rejeição alimentar, parada de crescimento, perda de peso, irritabilidade, apatia, regressão do desenvolvimento, movimentos extrapiramidais e desaceleração da taxa de crescimento do perímetro cefálico. Os exames complementares revelaram anemia megaloblástica, baixos níveis séricos de vitamina B12, hiper-homocisteinemia e acidúria metilmalônica. O tratamento com vitamina B12 foi realizado com boa evolução subsequente. Discussão: a deficiência de vitamina B12 deve ser avaliada no diagnóstico diferencial de lactentes com regressão do desenvolvimento, movimentos involuntários de início agudo ou subagudo, convulsões e apatia, principalmente se estiverem associados à anemia megaloblástica. Como os sintomas são relativamente inespecíficos, é necessário um alto grau de suspeição para poder realizar o diagnóstico precoce. O tratamento é simples e eficaz e, se realizado precocemente, pode prevenir danos cerebrais permanentes ou morte.

5.
Medicina (B Aires) ; 79 Suppl 3: 10-14, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603836

RESUMO

Preterm birth is one of the main country health indicators. It is associated with high mortality and significant morbidity in preterm newborns with cerebral palsy and potential long-term neurodevelopmental disabilities like cognitive and learning problems. The main lesions could be: a) white matter injuries, generally associated with cortical and other regions of grey matter neuronal-axonal disturbances; b) intracranial hemorrhage that includes germinal matrix, intraventricular and parenchymal, c) cerebellum injuries. The white matter lesions include cystic and non-cystic (with microscopic focal necrosis) periventricular leukomalacia and non-necrotic diffuse white matter injury. Multiple etiologic factors are associated with these injuries. Anatomical and physiological characteristics of periventricular vascular structures predispose white matter to cerebral ischemia and, interacting with infection/inflammation factors, activate microglia, generating oxidative stress (mediated by free oxygen and nitrogen radicals), pro-inflammatory cytokine and glutamate toxicity, energetic failure and vascular integrity disturbances. All these factors lead to a particular vulnerability of pre-oligodendrocytes that will affect myelination. Hypoxia-ischemia also may produce selective neuronal necrosis in different cerebral regions. Germinal matrix is a highly vascularized zone beneath ependymal or periventricular region that constitutes a capillary bed with a particular structural fragility that predispose it to hemorrhage.


Assuntos
Lesões Encefálicas/etiologia , Isquemia Encefálica/etiologia , Paralisia Cerebral/etiologia , Hipóxia-Isquemia Encefálica/etiologia , Recém-Nascido Prematuro , Leucomalácia Periventricular/etiologia , Lesões Encefálicas/diagnóstico por imagem , Lesões Encefálicas/mortalidade , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/mortalidade , Paralisia Cerebral/mortalidade , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/mortalidade , Recém-Nascido , Leucomalácia Periventricular/diagnóstico por imagem , Leucomalácia Periventricular/mortalidade , Substância Branca/patologia
6.
Medicina (B.Aires) ; 79(supl.3): 10-14, set. 2019. ilus
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1040542

RESUMO

Los nacimientos prematuros son uno de los principales indicadores de salud de un país. Están asociados a una alta mortalidad e importante morbilidad en niños con parálisis cerebral y otros trastornos del neurodesarrollo, incluyendo problemas cognitivos y del aprendizaje. Los principales tipos de lesión encefálica en los recién nacidos prematuros son: a) las lesiones de la sustancia blanca, generalmente asociadas a alteraciones neuronales y axonales en la corteza cerebral y otras zonas de sustancia gris; b) hemorragias intracraneanas que incluyen las de la matriz germinal, intraventriculares e intraparenquimatosas y c) del cerebelo. Las lesiones de sustancia blanca incluyen la leucomalacia periventricular quística, no quística (con focos de necrosis microscópicos) y lesiones difusas de sustancia blanca, no necróticas. Estas lesiones tienen múltiples factores etiológicos. Las características anatómicas y fisiológicas de las estructuras vasculares periventriculares predisponen a la sustancia blanca a ser muy vulnerable a las situaciones de isquemia cerebral y, en interacción con factores infecciosos/inflamatorios, activan a las microglías generando estrés oxidativo (por liberación de radicales libres del oxígeno y del nitrógeno), liberación de citoquinas proinflamatorias, liberación de glutamato, fallo energético y alteración de la integridad vascular. Todo lo anteriormente mencionado genera una particular vulnerabilidad de los pre-oligodendrocitos que termina alterando la mielinización. La hipoxia-isquemia también puede producir necrosis neuronal selectiva en diferentes regiones encefálicas. La matriz germinal es un área altamente vascularizada en la región subependimaria periventricular con una estructura capilar muy frágil que la predispone a las hemorragias.


Preterm birth is one of the main country health indicators. It is associated with high mortality and significant morbidity in preterm newborns with cerebral palsy and potential long-term neurodevelopmental disabilities like cognitive and learning problems. The main lesions could be: a) white matter injuries, generally associated with cortical and other regions of grey matter neuronal-axonal disturbances; b) intracranial hemorrhage that includes germinal matrix, intraventricular and parenchymal, c) cerebellum injuries. The white matter lesions include cystic and non-cystic (with microscopic focal necrosis) periventricular leukomalacia and non-necrotic diffuse white matter injury. Multiple etiologic factors are associated with these injuries. Anatomical and physiological characteristics of periventricular vascular structures predispose white matter to cerebral ischemia and, interacting with infection/inflammation factors, activate microglia, generating oxidative stress (mediated by free oxygen and nitrogen radicals), pro-inflammatory cytokine and glutamate toxicity, energetic failure and vascular integrity disturbances. All these factors lead to a particular vulnerability of pre-oligodendrocytes that will affect myelination. Hypoxia-ischemia also may produce selective neuronal necrosis in different cerebral regions. Germinal matrix is a highly vascularized zone beneath ependymal or periventricular region that constitutes a capillary bed with a particular structural fragility that predispose it to hemorrhage.

8.
Medicina (B Aires) ; 78 Suppl 2: 18-24, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30199360

RESUMO

A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in about 2-5% of children. Central nervous system infections should be considered in patients with febrile seizures, even though the frequency of this possibility is low, especially when patients do not return to baseline. Simple febrile seizures are considered benign events and there are clear guidelines about evaluation and management, but the evaluation of complex febrile seizures is controversial. They are associated with a small increased risk of epilepsy which cannot be prevented. The role of electroencephalography is controversial. We analyzed the data of many studies and concluded that epileptiform discharges have poor positive predictive value. Neuroimaging is recommended to look for acute or pre-existing hippocampal abnormalities following febrile status or focal febrile seizures that could be associated to the risk of developing mesial temporal sclerosis and temporal lobe epilepsy. The relationship between these disorders and febrile seizures remains a controversial issue. An abnormal electroencephalography or magnetic resonance imaging studies will not change the clinical management and could contribute to overdiagnosis.


Assuntos
Convulsões Febris/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/etiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Prognóstico , Fatores de Risco , Convulsões Febris/tratamento farmacológico
9.
Medicina (B.Aires) ; 78(supl.2): 18-24, set. 2018. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-955009

RESUMO

Las crisis febriles están asociadas a fiebre en niños entre 6 y 60 meses de edad, sin infección del sistema nervioso central u otras causas de crisis sintomáticas agudas y sin historia de crisis afebriles previas. Ocurren en aproximadamente el 2-5% de los niños. Se debe considerar la posibilidad de una infección del sistema nervioso, a pesar de que la frecuencia es extremadamente baja cuando el examen físico posterior a la crisis no es orientador. Mientras que el manejo clínico de los niños con crisis febriles simples está bien definido, considerándolas como eventos benignos auto-limitados, la conducta en los niños con crisis febriles complejas es controvertida. Se asocian con un aumento relativamente pequeño del riesgo de epilepsia, el cual no puede ser prevenido mediante ninguna forma de tratamiento. El rol del electroencefalograma también es controvertido. Analizamos los datos de varios estudios y concluimos que las descargas epileptiformes tienen valores predictivos positivos bajos e implican pequeñas variaciones entre la probabilidad pre y post-prueba para el desarrollo de epilepsia posterior. Se ha propuesto realizar resonancias magnéticas encefálicas para detectar cambios a nivel hipocampal previos, agudos o posteriores a crisis focales o estatus febriles que pudieran relacionarse con el riesgo de esclerosis mesial temporal y de epilepsia temporal. La relación etiológica entre estas entidades continúa siendo un tema controvertido. En cualquier caso, los estudios alterados no van a cambiar el manejo clínico de las crisis febriles y pueden contribuir al sobre-diagnóstico.


A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in about 2-5% of children. Central nervous system infections should be considered in patients with febrile seizures, even though the frequency of this possibility is low, especially when patients do not return to baseline. Simple febrile seizures are considered benign events and there are clear guidelines about evaluation and management, but the evaluation of complex febrile seizures is controversial. They are associated with a small increased risk of epilepsy which cannot be prevented. The role of electroencephalography is controversial. We analyzed the data of many studies and concluded that epileptiform discharges have poor positive predictive value. Neuroimaging is recommended to look for acute or pre-existing hippocampal abnormalities following febrile status or focal febrile seizures that could be associated to the risk of developing mesial temporal sclerosis and temporal lobe epilepsy. The relationship between these disorders and febrile seizures remains a controversial issue. An abnormal electroencephalography or magnetic resonance imaging studies will not change the clinical management and could contribute to overdiagnosis.

10.
Arch. pediatr. Urug ; 89(3): 171-178, jun. 2018. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-950137

RESUMO

Introducción: la encefalopatía posterior reversible (PRES) es un complejo sindromático caracterizado por cefaleas, crisis epilépticas, trastornos visuales y alteración del sensorio asociado a cambios en la sustancia blanca de lóbulos occipitales y parietales en la resonancia nuclear magnética. Se relaciona con diversas causas que provocan edema cerebral, entre las que se destaca la hipertensión arterial (HTA) y los tratamientos inmunosupresores. Descripción de casos: se incluyeron cuatro niños hospitalizados entre el 1 de enero de 2005 y el 31 de diciembre de 2015 en el Centro Hospitalario Pereira Rossell. La mediana de edad fue 11,5 años. La manifestación clínica inicial en tres de los cuatro pacientes fue disnea y edemas generalizados. Todos presentaron hipertensión endocraneana y convulsiones generalizadas. La tomografía computada fue la primera imagen solicitada en todos los pacientes, evidenciado lesiones hipodensas córtico-subcorticales occipitales, parietales y frontales. Se realizó resonancia magnética en tres casos con hallazgos característicos. Todos presentaron síndrome nefrítico con cifras de tensión arterial mayores al P99, insuficiencia renal reversible, disminución de C3 y aumento del antiestreptolisina O (AELO). El control de HTA requirió politerapia en unidad de cuidado crítico. Ninguno presentó secuelas neurológicas. Conclusiones: la PRES es una asociación o manifestación poco habitual de la emergencia hipertensiva. Es necesaria la sospecha e identificación por parte del pediatra con el fin de realizar un abordaje terapéutico adecuado y precoz.


Introduction: posterior reversible encephalopathy (PRES) is a complex syndrome characterized by headaches, epileptic seizures, visual disturbances and sensorial alterations associated to changes of white matter in parieto-occipital regions shown in magnetic nuclear resonance. It is linked to various causes that provoke cerebral edema including arterial hypertension (AH) and immunosuppressive treatments. Clinical cases: 4 children admitted between January 1st, 2005 and December 31st, 2015 at the Pereira Rossell Pediatric Hospital. Median age: 11.5 years. The initial clinical manifestation in 3 of 4 patients was dyspnea and generalized edema. All of them presented endocranial hypertension and generalized convulsions. CT was the first requested image to all patients, and it was clear that all of them had experienced occipital cortical-subcortical, parietal and frontal hypodense lesions. In three of the cases we performed a Magnetic Resonance that showed typical findings. All of them presented nephritic syndrome with arterial hypertension over P99, reversible renal failure, a decrease of C3 and an increase of Antistreptolysin O (AELO). HTA control required polytherapy at the critical care unit. None of them presented neurological sequelae. Conclusions: PRES is an association or unusual manifestation of hypertensive emergency. Early detection by pediatricians seems essential to provide an appropriate therapeutic approach.


Introdução: a encefalopatia posterior reversível (PRES) é uma síndrome complexa caracterizada por dores de cabeça, convulsões epilépticas, distúrbios visuais e alterações sensoriais associadas à mudança da substância branca nas regiões parieto-occipitais observadas na ressonância magnética nuclear. Está ligada a várias causas que provocam o edema cerebral, incluindo hipertensão arterial (HA) e tratamentos imunossupressores. Casos clínicos: 4 crianças internadas entre 1º de janeiro de 2005 e 31 de dezembro de 2015 no Hospital Pediátrico Pereira Rossell. Idade mediana: 11,5 anos. A manifestação clínica inicial em 3 dos 4 pacientes foi dispneia e edema generalizado. Todos apresentaram hipertensão endocraniana e convulsões generalizadas. A TC foi a primeira imagem solicitada e todos os pacientes mostraram lesões occipitais corticais-subcorticais, parietais e hipodensas frontais evidentes. Em três dos casos, a Ressonância Magnética mostrou achados típicos. Todos apresentaram síndrome nefrítica com hipertensão arterial acima de P99, insuficiência renal reversível, diminuição de C3 e aumento de antiestreptolisina O (AELO). O controle de HTA requereu politerapia na unidade de terapia intensiva. Nenhum dos pacientes apresentou sequelas neurológicas. Conclusões: A PRES é uma associação ou manifestação de emergência hipertensiva pouco comum. A detecção precoce do pediatra é essencial para fornecer uma abordagem terapêutica adequada.


Assuntos
Humanos , Masculino , Adolescente , Encefalopatia Hipertensiva/etiologia , Síndrome da Leucoencefalopatia Posterior/etiologia , Glomerulonefrite/diagnóstico , Criança Hospitalizada
11.
Pediátr. Panamá ; 46(2): 126-131, agosto-septiembre 2017.
Artigo em Espanhol | LILACS | ID: biblio-848347

RESUMO

Resumen La exposición y el uso de medios electrónicos por parte de la mayoría de los niños es una realidad desde los primeros años de vida. Esta realidad se ha instalado en la vida de nuestros niños y de nuestra sociedad antes de que investigaciones cientí cas hayan podido evaluar su real impacto en el neurodesarrollo infantil. En los lactantes y pre-escolares, la exposición a pantallas electrónicas se ha asociado a un menor nivel de desarrollo cognitivo y del lenguaje. Asimismo, a mediano plazo, se ha relacionado con mayor riesgo de sobrepeso, dé cit de atención, y el riesgo de adoptar una actitud pasiva frente al mundo. En la edad escolar y en la adolescencia, el uso de estos instrumentos tecnológicos puede brindar oportunidades positivas para los aprendizajes y para la socialización. Sin embargo, más frecuentemente se observa un uso excesivo de estos dispositivos electrónicos, que repercute sobre la capacidad de concentración, el rendimiento escolar y sobre la cantidad y calidad del sueño nocturno. Algunos adolescentes que utilizan demasiado las redes sociales presentan síntomas de depresión, de déficit de sueño, sobrepeso, aislamiento social (afectados por el ciber-bullying), o están expuestos a contenidos y contactos inapropiados o riesgosos, y comprometen su privacidad y la con dencialidad de sus datos personales. Por todo ello, la comunidad académica debe informar sobre estos serios riesgos a la población, al mismo tiempo que continúa desarrollando investigaciones para conocer mejor el impacto que tienen los diferentes medios electrónicos sobre el neurodesarrollo y el bienestar de los niños y adolescentes.


Abstract Exposure and use of electronic media by the majority of children is part of their reality since the first years of life. This reality has installed in the life of our kids and our society before scientific research has been able to assess their real impact in child neurodevelopment. In infants, toddlers and preschoolers, exposure to electronic screens has been related to cognitive and language delay. Additionally, in the medium term, it has been related to a greater risk of overweight, lack of concentration and attention deficit, and a greater risk to adopt a passive attitude. In school age and in adolescence, these technological devices may bring positive opportunities towards learning and socialization. Nevertheless, more frequently, an overuse of these technologies is being seen, that affect the attention ability, the school performance and the amount and quality of nocturnal sleep of children and adolescents. Some adolescents that overuse social media develop symptoms of depression, insuffcient sleep, overweight and social isolation (affected by cyber-bullying) or are exposed to inappropriate or risky contents and contacts, and they endanger their privacy and the confidentiality of their personal data. For all these reasons, academic community has to inform the society about these serious risks, at the same time that continues developing researches to assess more profoundly the impact of the different electronic media to the neurodevelopment and well-being of our children and adolescents.


Assuntos
Lactente , Pré-Escolar , Criança , Bullying , Desenvolvimento Infantil , Transtornos do Neurodesenvolvimento/prevenção & controle
12.
Neuropediatrics ; 48(3): 166-184, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28561207

RESUMO

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.


Assuntos
Adenosina Desaminase/genética , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/imunologia , Interferon Tipo I/metabolismo , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/imunologia , Proteínas de Ligação a RNA/genética , Adolescente , Adulto , Doenças Autoimunes do Sistema Nervoso/diagnóstico por imagem , Biomarcadores/metabolismo , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Mutação , Malformações do Sistema Nervoso/diagnóstico por imagem , Fenótipo , Adulto Jovem
13.
Rev. Urug. med. Interna ; 1(3): 110-117, dic. 2016. ilus
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1092300

RESUMO

RESUMEN Introducción: La Neurofibromatosis segmentaria se caracteriza por la presencia de manifestaciones de Neurofibromatosis tipo 1 limitadas a un área del cuerpo, y sin antecedente de familiares afectados. Es un ejemplo de mosaicismo, en el cual la enfermedad localizada resulta de una mutación somática post-cigótica en el gen de la Neurofibromatosis tipo 1, pudiendo afectar tanto la línea celular somática como gonadal. Es una enfermedad sub-diagnosticada, debido a que la mayoría de los pacientes con Neurofibromatosis segmentaria son asintomáticos o tienen pocos signos clínicos por lo cual la enfermedad puede pasar inadvertida, incluso para el paciente. Casos clínicos: Describimos tres casos clínicos de Neurofibromatosis segmentaria. Un niño de 6 años con una presentación bilateral, manifestada por una mancha café con leche localizada en el dorso desde el nacimiento y que a los 2 años agrega neurofibromas a ese nivel; una niña de 6 años que se presenta con un neurofibroma plexiforme a nivel del plexo braquial izquierdo sin otros elementos de Neurofibromatosis tipo 1; y por último una niña de 8 años con manchas café con leche y pecas inguinales en miembro inferior izquierdo, que desde el punto de vista neuropsicológico asocia un trastorno por déficit atencional con hiperactividad. Discusión: Es crucial conocer esta entidad y poder diagnosticarla en forma temprana en vistas a su manejo correcto yasesoramiento genético. Esto último es difícil dada la posible presencia de mosaicismo gonadal por la cual un paciente con Neurofibromatosis segmentaria puede tener descendientes con Neurofibromatosis tipo 1.


ABSTRACT Introduction: Segmental neurofibromatosis refers to patients with manifestations of Neurofibromatosis type 1 limited to a segment of the body, without affected relatives. It is an example of mosaicism. It occurs as a result of a postzygotic mutation in the Neurofibromatosis type 1 gene. Both somatic and gonadal cells can be affected.As most patients are asymptomatic or have few clinical signs, it can go unnoticed, even for the patient, so it is an underdiagnosed disease. Clinical cases: we describe three cases of segmental Neurofibromatosis: a 6 years old boy with bilateral presentation, characterized by a dorsal trunk café au lait spot from newborn period, which added a neurofibroma at 2 years of age; a 6 years old girl with a left brachial plexus plexiformneurofibroma; and a 8 years old girl with left inguinal fold freckles and café au lait spots, who associated anattentional deficit with hyperactivity disorder. Discussion: It is important to know this disorder, in order to make an early diagnosis, an appropriate treatment and genetic counseling. This last point is difficult due to the possibility of a gonadal mosaicism, by which a patient with segmental Neurofibromatosis can have descendants with Neurofibromatosis type 1.

14.
Arch. pediatr. Urug ; 87(4): 342-346, dic. 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-827820

RESUMO

Introducción: la melanocitosis dérmica incluye un espectro de lesiones de piel que abarca la mancha mongólica, entre otras lesiones. Las enfermedades lisosomales son afecciones de base genética que se caracterizan por la acumulación de metabolitos insolubles parciamente degradados en los compartimentos lisosomales, debido a una determinada deficiencia enzimática. Las deficiencias de b-galactosidasa y de a-L-iduronidasa provocan la gangliosidosis GM1 y la mucopolisacaridosis tipo I respectivamente, ambas presentando similitudes en su presentación clínica. La asociación de la melanocitosis dérmica con las enfermedades lisosomales es poco común y mal entendida. Objetivo: reportar dos pacientes con esta rara asociación. Casos clínicos: dos varones de 3 y 9 meses sin antecedentes prenatales ni perinatales a destacar y antecedentes de infecciones respiratorias reiteradas. Se presentaron con retraso del desarrollo, hipotonía central y trastorno deglutorio. Al examen se constató hepatomegalia, fascies tosca y melanosis dérmica extensa. Los estudios permitieron diagnosticar al paciente de 3 meses mucopolisacaridosis Tipo I y al de 9 meses gangliosidosis GM1. Discusión: no se conoce exactamente la causa de esta asociación. Se plantea que sería el resultado de la acumulación de gangliósidos y heparán sulfato que estimularían al receptor del factor de crecimiento neuronal de tipo tirosinquinasa, deteniendo la migración de los melanocitos en la dermis. Por lo tanto la melanosis dérmica aberrante, en el contexto clínico adecuado, puede ser un signo que facilite el diagnóstico de una enfermedad lisosomal subyacente.


Introduction: dermal melanocytosis includes a spectrum of skin lesions, mongolian spots being one of them. Lysosomal storage diseases are characterized by the accumulation of partially degraded insoluble metabolites in lysosomal compartments due to enzyme deficiency. Deficiency in b-galactosidosisis is the cause of GM1 gangliosidosis and deficiency in a-L-iduronidasa of mucopolysaccharidosis type I. Both have similar clinical presentations. Association of dermal melanocytosis and lysosomal storage diseases is uncommon and misunderstood. Objective: to report the case of two patients with this rare association. Clinical cases: the study presents two boys, 3 and 9 months old, with no remarkable family, pregnancy or delivery history. Both had repeated respiratory tract infections. They presented with developmental delay, central hypotonia and swallowing disorder. Upon clinical examination they showed hepatomegaly, coarse facies and extensive dermal melanocytosis. They were diagnosed with GM1 gangliosidosis and mucopolysaccharidosis type I. Discussion: the cause of this association is not well known. It is hypothesized that accumulation of gangliosides and heparan sulfates stimulates tyrosine-kinase neuronal growth factor receptor, stopping dermal melanocytosis migration. Therefore extensive dermal melanocytosis, in an appropriate clinical setting, may contribute to diagnosing lysosomal storage diseases.


Assuntos
Humanos , Masculino , Lactente , Neoplasias Cutâneas , Doenças por Armazenamento dos Lisossomos/complicações , Gangliosidose GM1/diagnóstico , Mucopolissacaridose I/diagnóstico , Mancha Mongólica/etiologia
15.
Mitochondrion ; 28: 54-9, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27017994

RESUMO

Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Using next generation sequencing we found that mutation 3697G>A was responsible for the patient's clinical symptoms. Corroboration was performed via segregation analysis in mother and sister and by evolutionary analysis that showed that the mutation is located in a highly conserved region across a wide range of species. Functional analyses corroborated the mutation effect and indicated that the pathophysiological alterations were partially restored by Coenzyme Q10. In addition, we proposed that the presence of the mutation at high frequencies causes the phenotype in the patient, while other family members with intermediate levels of heteroplasmy are symptoms-free.


Assuntos
Doença de Leigh/genética , NADH Desidrogenase/genética , Mutação Puntual , Pré-Escolar , DNA Mitocondrial/química , DNA Mitocondrial/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico
17.
Arch. med. interna (Montevideo) ; 37(3): 150-153, nov. 2015. ilus
Artigo em Espanhol | LILACS-Express | LILACS | ID: lil-770763

RESUMO

Resumen: El complejo esclerosis tuberosa (CET) es una enfermedad genética multisistémica determinada por la pérdida de función del complejo hamartina/tuberina. Esto causa activación del m-TOR con formación de tumores como el astrocitoma subependimario de células gigantes (SEGA). El everolimus inhibe el m-TOR reduciendo el tamaño de los SEGA. El objetivo de este trabajo es mostrar la experiencia del primer caso de SEGA tratado con everolimus en Uruguay. Caso: Escolar de 6 años, con desarrollo normal, sin epilepsia y portador de CET. A los 5 años instala hipertensión intracraneana por hidrocefalia secundaria al SEGA. Se realiza cirugía lográndose resección parcial, con remanente tumoral de 14.3cm³. Se inició everolimus evidenciando las resonancias magnéticas de control una reducción del tamaño tumoral del 54.5% al mes, del 65.5% a los 3 meses y del 68.5% a los 6 meses de iniciado el tratamiento. Presentó efectos secundarios menores (aftas bucales, infecciones respiratorias altas). La buena respuesta obtenida aporta evidencia del uso del everolimus como tratamiento complementario a la cirugía en los pacientes con SEGA.


Abstract: Tuber sclerosis complex (TSC) is a multisystemic genetic disease caused by a loss of function of hamartin/tuberin complex. This results in an m-TOR activation with tumor formation, among which is subependymal giant cell astrocytoma (SEGA). Everolimus inhibits m-TOR reducing SEGA size. The objective of this work is to show the first experience of SEGA treatment with everolimus in Uruguay. Case: 6 years old boy with TSC, with normal development and no history of seizures. At the age of 5 he installed intracranial hypertension due to hydrocephalus secondary to a SEGA. With surgery tumor was partially resect, with a 14.3cm³ tumor remnant. Treatment with everolimus was iniciated with a tumor size reduction of 54.5% after the first month of treatment, 65.5% after 3 months and 68.5% after 6 months. He had minor secondary effects (mouth ulcerations and upper respiratory tract infections). Good response in this patient shows evidence of possible use of everolimus as an adjuvant terapy to surgery in SEGA.

18.
Arch. pediatr. Urug ; 86(3): 176-186, set. 2015. tab
Artigo em Espanhol | LILACS | ID: lil-763416

RESUMO

Introducción: el diagnóstico y el tratamiento temprano del síndrome de Guillain-Barré (SGB) es importante para reducir la morbimortalidad de la enfermedad, por lo cual es capital conocer las manifestaciones clínicas iniciales y el rendimiento de las pruebas diagnósticas. Objetivos: describir las características de los pacientes menores de 15 años hospitalizados por SGB en el Centro Hospitalario Pereira Rossell entre el 1 de enero de 2000 al 31 de diciembre de 2011. Método: estudio descriptivo, retrospectivo, en base a revisión de historias clínicas. Resultados: se incluyeron 82 pacientes, 52 eran de sexo masculino. La mediana de edad fue de 6 años. 59 pacientes requirieron internación en unidad de cuidados intensivos. El síntoma más frecuente fue la paresia de miembros inferiores (80 pacientes), seguido del dolor en miembros inferiores (64 pacientes). El 29% de nuestra serie se presentó clínicamente como variantes atípicas de SGB. La mitad de los pacientes presentó un Hughes 4 en el nadir de la enfermedad. A 77 pacientes se les realizó estudio del líquido cefalorraquídeo, reiterándose en 17 pacientes, mostrando disociación albúmino citológica en 19/53 (36%) de los estudios realizados en los primeros 7 días de evolución, y en 39/41 (95%) de los estudios realizados luego de los 7 días. Conclusiones: se destacan las diversas manifestaciones clínicas del SGB y la baja sensibilidad del estudio del líquido cefalorraquídeo en la primera semana de evolución.


Introduction: early diagnosis and treatment of Guillain-Barré is important to reduce morbimortality of the condition and thus, it is essential to learn about initial clinical presentations and the yield of diagnostic tests. Objectives: to describe the characteristics of patients under 15 years of age who were hospitalized due to Guillain-Barré syndrome at the Pereira Rossell Hospital Center from January 1, 2000 through December 31, 2011. Method: descriptive, retrospective study based on a review of the clinical records. Results: eighty two patients were included, 52 of them were male. Fifty nine patients required to be admitted to the intensive care unit. The most frequent symptom was paresia of the lower limbs (80 patients), followed by pain in the lower limbs (64 patients). Twenty nine percent of our series evidenced clinical presentations that were not typical of Guillain-Barré syndrome. Half of the patients presented disease severity at nadir grade 4 by Hughes. Seventy seven patients underwent a study of the spinal fluid, and this was repeated in 17 patients, what showed albuminocytologic dissociation in 19 out of 53 (36%) of the tests performed in the first seven days of evolution, and in 39 out of 41 (95%) of the tests performed after seven days. Conclusions: we point out the diverse clinical presentations of the Guillain-Barré syndrome and the low sensitivity of the spinal fluid in the first week of evolution.


Assuntos
Humanos , Masculino , Síndrome de Guillain-Barré/diagnóstico , Uruguai , Registros Médicos , Síndrome de Guillain-Barré/terapia , Diagnóstico Diferencial , Eletrofisiologia , Histocitoquímica
19.
Arch. med. interna (Montevideo) ; 37(1): 43-46, mar. 2015.
Artigo em Espanhol | LILACS-Express | LILACS | ID: lil-754175

RESUMO

La encefalitis por anticuerpos antirreceptor de glutamato de tipo N-Metil-D-Aspartato (Anti-NMDA) es una encefalopatía inmunomediada caracterizada por síntomas psiquiátricos, trastornos mnésicos, del lenguaje, convulsiones, disquinesias, compromiso de conciencia, inestabilidad autonómica e hipoventilación. El objetivo de este trabajo es mostrar los primeros dos casos de Encefalitis Anti-NMDA pediátricos confirmados en Uruguay. Casos: 2 varones de 6 y 14 años, sanos. El primero presentó inicialmente síntomas obsesivo-compulsivos y trastorno en la marcha. El segundo cefaleas de 10 días de evolución. Agregaron mutismo, incontinencia urinaria, trastorno de conducta, movimientos coreoatetósicos, distonías e inestabilidad autonómica. La resonancia de cráneo no mostró imágenes específicas, el líquido cefalorraquídeo fue normal y el electroencefalograma mostró un enlentecimiento difuso. Los anticuerpos Anti-NMDA fueron positivos en sangre y líquido cefalorraquídeo. Fueron tratados con metilprednisolona más inmunoglobulinas, requiriendo el primero asociar Rituximab. Esta enfermedad debe ser diagnosticada precozmente para iniciar el tratamiento inmunosupresor, de lo que depende el pronóstico.


Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an immunomediated encephalopathy that presents with psiquiatric psymptoms, speech dysfunction, memory problems, seizures, abnormal movements, autonomic dysfunction, hipoventylation and decreased consciousness. The objective of this study is to show the first two pediatric cases of Anti-NMDA receptor encephalitis confirmed in Uruguay. Clinical cases: Two boys, 6 and 14 years old, with Anti-NMDA receptor encephalitis. The first one had a subacute presentation with obsessive-compulsive symptoms and gate disorder while the second started with headaches. Both added mutism, urinary incontinence, behavioral and autonomic dysfunction and movement disorder. Magnetic resonance image and cerebrospinal fluid was normal. Electroencephalogram showed diffuse slow background activity. Serum and cerebrospinal fluid Anti-NMDA antibodies were positive. Both were treated with methylprednisolone and immunoglobulins, one of them also received Rituximab. We want to emphasize the importance of early diagnosis of this immunomediated encephalopathy in order to start treatment as soon as possible.

20.
Rev. méd. Urug ; 31(1): 27-31, mar. 2015.
Artigo em Espanhol | LILACS | ID: lil-768036

RESUMO

La artrogriposis múltiple congénita (AMC) comprende a un grupo heterogéneo de trastornos congénitos caracterizados por deformidades con contracturas articulares múltiples. Objetivo: describir las características demográficas, clínicas y funcionales de los pacientes con AMC de tipo amioplasia. Método: estudio descriptivo retrospectivo mediante la revisión de historias clínicas de pacientes con AMC de tipo amioplasia que ingresaron en un período de cinco años. Como herramienta de evaluación funcional se utilizó la escala WeeFIM. Resultados: se incluyeron 19 pacientes. Todos recibieron fisioterapia, y aquellos con compromiso de miembros superiores (MMSS) también terapia ocupacional. El 95% usaron algún tipo de órtesis. El 95% fueron tratados con yesos progresivos, de los cuales la mayoría fueron a nivel de miembros inferiores (MMII). A 74% se les realizó cirugía ortopédica. Aquellos con compromiso de MMII fueron sometidos a cirugía en los pies. De los 15 niños (79%) con compromiso de MMII: 10 (67%) tienen marcha comunitaria. Conclusiones: se analizaron las características de 19 niños. Con respecto a las actividades de la vida diaria (AVD) en niños mayores de 3 años con compromiso de MMSS, casi todos pueden alimentarse por sus propios medios y el vestido de tren superior es la actividad en la que presentan mayor dificultad, para lo cual destacamos la importancia de la terapia ocupacional. A pesar de que una alta proporción tienen comprometidos sus MMII, la mayoría logra una marcha independiente. Para llegar a esta situación todos van a requerir de fisioterapia y la mayoría de tratamientos ortopédicos como yesos seriados y/o cirugías ortopédicas a nivel de MMII...


Arthrogryposis multiplex congenita includes a series of heterogeneous disorders characterized by multiple joint contractures.Objective: to describe demographic, clinical and functional characteristics of patients with amyoplasia type AMC.Method: retrospective descriptive study conducted by reviewing the medical histories of patients with amyoplasia type AMC, who were admitted during a 5 year period. The WeeFim scale was used as an instrument to measure functional independence.Results: 19 patients were included. They all received physiotherapy and those whose upper limbs were compromised also received occupational therapy. Ninety five percent used some kind of orthosis. Also, 95% were treated with serial casting, the majority of which were used in the lower limbs. Seventy four per cent of patients underwent orthopedic surgery. Those patients whose lower limbs were compromised were also operated on their feet. Ten (67%) out of 15 (79%) children whose lower limbs are compromised evidenced community ambulation.Conclusions: the characteristics of 19 children were analysed. As to the AVD in children over three years old with upper limb compromise, almost all of them may eat on their own, and getting dressed above their waist is the activity they find the hardest. Thus, we point out the importance of occupational therapy. In spite of the fact that a large number of children have their lower limbs compromised, most of them achieve community ambulance. In order to do so, they need physiotherapy and most orthopedic treatments such as serial casting and/or orthopedic surgeries in the lower limbs...


A artrogripose múltipla congênita compreende um grupo heterogéneo de transtornos congênitos caracterizados por deformações com contraturas articulares múltiplas.Objetivo: descrever as características demográficas, clínicas e funcionais dos pacientes com AMC do tipo Amioplasia.Método: estudo descritivo retrospectivo, realizado pela revisão dos prontuários de pacientes com AMC do tipo amioplasia que ingressaram em um período de cinco anos. A escala de Wee fin foi utilizada como ferramenta de avaliação funcional.Resultados: foram incluídos 19 pacientes. Todos receberam tratamento fisioterápico; os que apresentavam compromisso de membros superiores também foram submetidos à terapia ocupacional. 95% usaram algum tipo de órtese. 95% foram tratados com gessos progressivos, a maioria nos membros inferiores. 74% foram submetidos à cirurgia ortopédica. Os que apresentavam compromisso de membros inferiores foram submetidos à cirurgia nos pés. Das 15 crianças (79%) com compromisso de MMII: 10 (67%) têm marcha comunitária.Conclusões: foram analisadas as características de 19 crianças. Com relação às AVD, as crianças com mais de três anos com compromisso de MMSS, quase todas podem alimentar-se sozinhas e vestir o trem superior sendo esta a atividade que apresenta maior dificuldade, razão pela qual destacamos a importância da terapia ocupacional. Apesar de que uma alta proporção têm os MMII comprometidos, a maioria apresenta marcha independente. Para chegar a esta situação todos necessitarão fisioterapia e a maioria tratamentos ortopédicos como gessos seriados e/ou cirurgias ortopédicas de membros inferiores...


Assuntos
Humanos , Anormalidades Congênitas , Artrogripose
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