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No disponible
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Humanos , Aconselhamento Genético , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Guias de Prática Clínica como Assunto/normas , Transtornos de Deglutição , Seguimentos , Distrofia Miotônica/complicaçõesRESUMO
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
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Aconselhamento Genético , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Guias de Prática Clínica como Assunto/normas , Transtornos de Deglutição , Seguimentos , Humanos , Distrofia Miotônica/complicaçõesRESUMO
Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la infancia con aparición posterior de complicaciones musculoesqueléticas, respiratorias y cardíacas que ocasionan discapacidad, dependencia y muerte prematura. Actualmente su tratamiento se fundamenta en medidas sintomáticas multidisciplinares que han modificado favorablemente el curso de la enfermedad, por lo que resulta crucial establecer unas directrices claras y actualizadas que permitan tanto una detección temprana de la enfermedad como un adecuado tratamiento y seguimiento de sus posibles complicaciones. Desarrollo: Con el fin de obtener una visión general de los aspectos abordados por las guías actuales y detectar aquellos en los que todavía no existe un consenso y su abordaje sea relevante, se realizó una revisión de la literatura en la base de datos biomédicas de los últimos 10 años. El grado de evidencia y el nivel de recomendación de la información obtenida se clasificaron y ordenaron de acuerdo con los criterios de la American Academy of Neurology (AAN). Conclusiones: El abordaje de la DMD debe ser multidisciplinar y ajustado al perfil del paciente y su grado de evolución clínica, comprendiendo, además del tratamiento basado en corticoides, medidas a nivel gastrointestinal, respiratorio, cardiaco, fisioterapéutico y ortopédico dirigidas a mejorar la calidad de vida de los pacientes. Los estudios genéticos desempeñan un papel clave en el manejo de la enfermedad, tanto en la detección de casos y posibles portadoras como en la caracterización de la mutación implicada y el desarrollo de nuevas terapias
Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies
Assuntos
Humanos , Masculino , Feminino , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/terapia , Algoritmos , Seguimentos , Guias de Prática Clínica como AssuntoRESUMO
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DEVELOPMENT: We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. CONCLUSIONS: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.
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Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/terapia , Algoritmos , Criança , Seguimentos , Humanos , Guias de Prática Clínica como AssuntoRESUMO
INTRODUCTION: Obstetric brachial plexus palsy is related with shoulder dystocia, and its main risk factor is macrosomia. Its incidence is estimated to be between 0.1 and 6.3 cases per 1,000 live newborn infants. Most cases are resolved but can give rise to permanent functional deficiency, which means that there is an interest to identify possible prognostic factors. PATIENTS AND METHODS: We conducted a descriptive study of newborn infants with obstetric brachial plexus palsy born in our hospital between the years 2011 and 2015. Maternal, perinatal and obstetric variables, as well as the type of lesion, were collected and were related with the possibility of recovery at six months. RESULTS: Altogether 32 cases were diagnosed, which represents an incidence of 1.44 of live newborn infants. 59% were males and 37.5% of them were macrosomic. The most frequent disorder was injury to the plexus at the proximal level (94%). 44% suffered from shoulder dystocia, and 47% still had sequelae at the sixth month. The antecedent of shoulder dystocia was related with a poor prognosis for recovery. CONCLUSIONS: The incidence of obstetric brachial plexus palsy has remained stable in recent years. The percentage of children who present sequelae at six months is significant. Prospective studies are needed to be able to establish the long-term prognostic factors of this pathology.
TITLE: Paralisis braquial obstetrica: incidencia, seguimiento evolutivo y factores pronosticos.Introduccion. La paralisis braquial obstetrica se relaciona con la distocia de hombros, y su principal factor de riesgo es la macrosomia. Su incidencia se estima entre 0,1 y 6,3 casos por 1.000 recien nacidos vivos. La mayoria de los casos se resuelve, pero puede provocar deficit funcional permanente, por lo que es de interes identificar posibles factores pronosticos. Pacientes y metodos. Estudio descriptivo de los recien nacidos con paralisis del plexo braquial obstetrica nacidos en el hospital entre los años 2011 y 2015. Se han recogido variables maternas, perinatales, obstetricas y del tipo de lesion, y se han relacionado con la posibilidad de la recuperacion a los seis meses. Resultados. Se diagnosticaron 32 casos, lo que supone una incidencia del 1,44 de recien nacidos vivos. El 59% fueron varones, y el 37,5%, macrosomicos. La afectacion mas frecuente fue la lesion del plexo a nivel proximal (94%). El 44% sufrio distocia de hombros, y el 47% permanecio con secuelas al sexto mes. El antecedente de distocia de hombros se relaciono con mal pronostico de recuperacion. Conclusiones. La incidencia de paralisis braquial obstetrica se mantiene estable en los ultimos años. El porcentaje de niños que presentan secuelas a los seis meses es relevante. Son necesarios estudios prospectivos para poder establecer los factores pronosticos a largo plazo de esta patologia.
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Traumatismos do Nascimento , Neuropatias do Plexo Braquial , Traumatismos do Nascimento/diagnóstico , Traumatismos do Nascimento/epidemiologia , Neuropatias do Plexo Braquial/diagnóstico , Neuropatias do Plexo Braquial/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Gravidez , Prognóstico , Estudos Retrospectivos , Fatores de TempoRESUMO
INTRODUCTION: Presumed perinatal ischemic stroke is a frequent cause of neurological sequelae. We aimed to describe the different clinical findings and risk factors and to analyse the differences according the vascular origin. PATIENTS AND METHODS: Retrospective, descriptive study of patients diagnosed with presumed perinatal ischemic stroke attended at a tertiary pediatric hospital from 1990 to 2015. RESULTS: 44 patients were included. A total of 24 patients (55%) had arterial ischemic stroke and 20 (45%) had periventricular venous infarction. Delay in diagnosis was significantly higher in patients with periventricular venous infarction compared to those with arterial ischemic stroke (14 and 8 months respectively; p = 0.025). Most patients presented with asymmetrical motor development (90%), only < 5% with seizures or non motor delays. Subsequent epilepsy at follow-up was significantly more prevalent in arterial ischemic stroke group (p = 0.020). We determined risk factors theoretically involved in the pathogenesis of presumed perinatal ischemic stroke: prenatal, obstetrical, perinatal, prothrombotic and cardiac. No significant differences between risk factors and vascular origin were found. Prothrombotic abnormalities were common (48.3%). CONCLUSIONS: Investigation in risk factors implicated in presumed perinatal ischemic stroke is required to develop prevention strategies. Delay in diagnosis is higher in periventricular venous infarction group.
TITLE: Ictus isquemico presumiblemente perinatal: factores de riesgo, hallazgos clinicos y radiologicos.Introduccion. El ictus isquemico presumiblemente perinatal es una causa frecuente de secuelas neurologicas importantes. Los objetivos del estudio son describir las caracteristicas clinicas y los factores de riesgo implicados, y analizar las diferencias segun su origen vascular. Pacientes y metodos. Estudio descriptivo retrospectivo que incluye pacientes con diagnostico de ictus isquemico presumiblemente perinatal atendidos en un hospital terciario entre 1990-2015. Resultados. Se incluyeron 44 pacientes: 24 (55%) fueron de origen arterial, frente a 20 (45%) de origen venoso. El diagnostico fue significativamente mas tardio en los de origen venoso que en los de origen arterial (14 y 8 meses respectivamente; p = 0,025). La mayoria comenzo con un deficit motor (90%), y las crisis epilepticas y el retraso psicomotor global fueron menos frecuentes en ambos grupos (< 5%). La prevalencia de epilepsia posterior fue significativamente mas frecuente entre los de origen arterial (p = 0,020). Se analizaron los factores de riesgo teoricamente implicados en su patogenia: prenatales, obstetricos, perinatales, protromboticos y cardiacos, sin hallarse diferencias significativas en la presencia de estos entre los infartos arteriales y los venosos. Encontramos la presencia de al menos una alteracion en el estudio de hipercoagulabilidad en el 48,3% de los pacientes. Conclusion. Es preciso investigar el papel que desempeñan los factores de riesgo implicados en el ictus isquemico presumiblemente perinatal para establecer medidas preventivas. Su diagnostico es mas tardio si el origen es venoso.
Assuntos
Isquemia Encefálica/epidemiologia , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/embriologia , Isquemia Encefálica/etiologia , Artérias Cerebrais/diagnóstico por imagem , Veias Cerebrais/diagnóstico por imagem , Diagnóstico Tardio , Parto Obstétrico , Embolia Paradoxal/epidemiologia , Epilepsia/etiologia , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/epidemiologia , Doenças Fetais/etiologia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/etiologia , Imageamento por Ressonância Magnética , Masculino , Transtornos dos Movimentos/etiologia , Neuroimagem , Assistência Perinatal , Estudos Retrospectivos , Fatores de Risco , Espanha/epidemiologia , Centros de Atenção Terciária/estatística & dados numéricos , Trombofilia/complicações , Trombofilia/diagnóstico , Trombofilia/epidemiologia , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Acute cerebellitis is one of the main causes of cerebellar syndrome in infancy. Among the wide range of manifestations, headache and ataxia being the most predominant, we can find other less frequent, although nonetheless interesting, ones, such as language disorders, which go beyond the well-known cerebellar dysarthria. The different combinations in which the symptoms can appear, especially when not accompanied by ataxia, make the condition a real challenge for the clinician. CASE REPORTS: Two patients, aged 2 and 4 years, with clinical features, lab tests and neuroimaging results consistent with parainfectious acute cerebellitis. Both of them also presented a striking language disorder, one in the form of cerebellar mutism and the other in the form of hypofluency and agrammatism, the latter also developing in the absence of ataxia. Both cases progressed favourably, and mild speech alterations persisted in the follow-up visits. CONCLUSIONS: Cases such as these expand the range of clinical manifestations of acute cerebellitis. The involvement of the cerebellum in neurocognitive processes like language is becoming increasingly more important and, although many aspects are still only speculations, managing to define its true role will have important repercussions on the diagnosis, treatment and long-term prognosis of these patients.
TITLE: Alteraciones del lenguaje en la cerebelitis aguda: mas alla de la disartria.Introduccion. La cerebelitis aguda es una de las principales causas de sindrome cerebeloso en la infancia. Entre un amplio elenco de manifestaciones, en el que predominan la cefalea y la ataxia, podemos encontrar otras menos habituales, aunque interesantes, como las alteraciones del lenguaje, mas alla de la bien conocida disartria cerebelosa. Las diferentes combinaciones en que pueden aparecer los sintomas, especialmente cuando no se acompañan de ataxia, hacen de este cuadro un verdadero reto para el clinico. Casos clinicos. Se presentan dos pacientes, de 2 y 4 años, con clinica, pruebas de laboratorio y neuroimagen compatibles con cerebelitis aguda parainfecciosa, que asociaron una llamativa alteracion del lenguaje, uno en forma de mutismo cerebeloso y otro en forma de hipofluencia y agramatismo, y este ultimo cursaba ademas en ausencia de ataxia. La evolucion de ambos casos fue buena, y persistieron leves alteraciones del habla en el seguimiento posterior. Conclusiones. Casos como estos amplian el espectro de manifestaciones clinicas de la cerebelitis aguda. Cada vez cobra mayor importancia la participacion del cerebelo en procesos neurocognitivos como el lenguaje y, aunque muchos aspectos son aun especulativos, alcanzar a definir su verdadero papel tendra una repercusion en el diagnostico, el tratamiento y el pronostico a largo plazo de estos pacientes.
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Afasia de Broca/etiologia , Doenças Cerebelares/complicações , Encefalite/complicações , Mutismo/etiologia , Distúrbios da Fala/etiologia , Doença Aguda , Corticosteroides/uso terapêutico , Ataxia Cerebelar/etiologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/tratamento farmacológico , Pré-Escolar , Distúrbios do Sono por Sonolência Excessiva/etiologia , Encefalite/diagnóstico por imagem , Feminino , Cefaleia/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Tomografia Computadorizada por Raios XRESUMO
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Humanos , Masculino , Feminino , Criança , Trombose Venosa , Trombose Intracraniana , Leucemia , AsparaginaseRESUMO
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Humanos , Masculino , Criança , Cefaleia/etiologia , Hemicrania Paroxística/diagnóstico , Lobo Frontal , Rinite/etiologia , Indometacina/administração & dosagemRESUMO
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Humanos , Masculino , Feminino , Criança , Adolescente , Coreia/etiologia , Febre Reumática/diagnóstico , AutoanticorposAssuntos
Coreia/etiologia , Febre Reumática/complicações , Adolescente , Criança , Feminino , Humanos , Masculino , Febre Reumática/diagnósticoRESUMO
El gen TSC2, responsable de la esclerosis tuberosa, se encuentra en el cromosoma 16p13.3, adyacente al gen de la poliquistosis renal autosómica dominante PKD1. Una deleción de gran tamaño puede afectar a ambos genes produciendo el llamado «síndrome de deleción de genes contiguos TSC2/PKD1» (MIM#600273). Se caracteriza por la presencia de quistes renales congénitos o de aparición muy precoz, en pacientes con esclerosis tuberosa, e implica un peor pronóstico de la enfermedad renal. Presentamos el caso de un niño de 6 años con esclerosis tuberosa, que en el período neonatal presentaba múltiples quistes renales de gran tamaño y bilaterales, realizándose posteriormente un estudio de confirmación genética mediante la técnica MLPA (AU)
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique (AU)
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Humanos , Masculino , Criança , Síndrome da Deleção 22q11/epidemiologia , Síndrome da Deleção 22q11/genética , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Cistos/complicações , Cistos/diagnóstico , Cistos/genética , Esclerose Tuberosa/fisiopatologia , Abdome/patologia , Abdome , Hipertensão/complicações , Angiofibroma/complicações , Angiofibroma/diagnósticoRESUMO
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
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Deleção de Genes , Rim Policístico Autossômico Recessivo/genética , Canais de Cátion TRPP/genética , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Criança , Humanos , Masculino , Síndrome , Proteína 2 do Complexo Esclerose TuberosaRESUMO
No disponible
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Humanos , Feminino , Criança , Síndrome da Leucoencefalopatia Posterior/induzido quimicamente , Antineoplásicos/efeitos adversos , Cisplatino/efeitos adversos , Espectroscopia de Ressonância MagnéticaRESUMO
Introducción. La encefalitis autoinmune contra receptores N-metil-D-aspartato (NMDA) se diagnostica cada vez con mayor frecuencia en la edad pediátrica. Debe sospecharse en niños con sintomatología psiquiátrica, encefalopatía, movimientos anormales o crisis epilépticas. Los casos paraneoplásicos son menos frecuentes que en adultos. Caso clínico. Niño de 2,5 años con cuadro encefalopático subagudo que comenzó con crisis epilépticas seguidas de alteraciones del comportamiento, regresión neurológica, discinesias e insomnio. El estudio del líquido cefalorraquídeo fue normal, en la resonancia magnética craneal existía una lesión periventricular focal y captación leptomeníngea difusa y los electroencefalogramas seriados revelaron una actividad delta de gran amplitud intercalada con actividad epileptiforme intercrítica generalizada. Recibió tratamiento empírico con altas dosis de corticoides e inmunoglobulinas intravenosas sin respuesta. Tras demostrarse la positividad de anticuerpos contra el receptor NMDA se inició la plasmaféresis, con la que experimentó una mejoría rápida y espectacular. Tras más de 18 meses de seguimiento, sus secuelas se limitan a leves alteraciones conductuales y del lenguaje. No ha presentado recaídas ni ha precisado ningún tratamiento de mantenimiento. Conclusiones. La encefalitis anti-NMDA es un trastorno tratable y, ocasionalmente, el primer indicio de una neoplasia subyacente, por lo que su reconocimiento y tratamiento precoz es fundamental. El tratamiento de las formas no paraneoplásicas se basa en la inmunoterapia: glucocorticoides, inmunoglobulinas intravenosas, plasmaféresis e inmunosupresores. La plasmaféresis puede inducir una mejoría rápida y espectacular (AU)
Introduction. Autoimmune encephalitis against N-methyl-D-aspartate (NMDA) receptors is being diagnosed more and more frequently in the paediatric age. It should be suspected in children with psychiatric symptoms, encephalopathy, abnormal movements or epileptic seizures. Paraneoplastic cases are less frequent than in adults. Case report. We report the case of a boy, 2.5 years of age, with subacute encephalopathic signs and symptoms and epileptic seizures followed by behaviour disorders, neurological regression, dyskinesias and insomnia. Results of a cerebrospinal fluid study were normal, the magnetic resonance scan of the head revealed a focal periventricular lesion and diffuse leptomeningeal uptake; moreover, the serial electroencephalograms showed high-amplitude delta activity interspersed with generalised intercritical epileptiform activity. The patient was given empirical treatment with high doses of corticoids and intravenous immunoglobulins with no response. After showing up positive for antibodies against the NMDA receptor, plasmapheresis was begun, which led to his swift and spectacular recovery. After more than 18 months follow-up, his sequelae are limited to mild behavioural and language alterations. He has had no relapses and has not needed any kind of maintenance treatment. Conclusions. Anti-NMDA encephalitis is a treatable disorder and, sometimes, the first evidence of an underlying neoplasia, which makes its early recognition and treatment essential. Treatment of the non-paraneoplastic forms are based on immunotherapy: glucocorticoids, intravenous immunoglobulins, plasmapheresis and immunosuppressants. Plasmapheresis can bring about a fast, spectacular improvement (AU)