RESUMO
Introducción: El daño cerebral adquirido (DCA) se define como una lesión neurológica, acaecida de forma aguda, en algún momento de la vida provocando deficiencia o pérdida de capacidad funcional. En el año 2019 se crea un documento específico por parte del defensor del pueblo señalando la relevancia de la atención a esta entidad en la edad pediátrica. Pacientes y método: Se presenta el proceso de creación y la casuística de atención de una de las primeras unidades de atención integral al DCA en fase subaguda en edad pediátrica dentro del sistema público de salud.Resultados: Se han elaborado diferentes guías clínicas sobre el proceso de admisión y atención dentro de la unidad, tanto al paciente como a sus familiares. Se han atendido 24 pacientes ≤18 años, ingresados en la unidad de DCA en fase subaguda desde noviembre de 2019 hasta julio de 2021, 12 provenientes de la Comunidad de Madrid. La mediana de edad fue de 6,97 años. El mecanismo traumático fue el más frecuente predominando las causas iatrogénicas, seguido de la precipitación y los accidentes relacionados con vehículos. A su ingreso en la unidad, 8 mantenían un estado de mínima conciencia/vegetativo. Se requirió la colaboración de hasta 14 especialistas diferentes dada la complejidad de los pacientes. La evolución fue globalmente favorable en 23 casos, con secuelas en todos ellos. Conclusión: Es de vital importancia la creación de unidades especializadas en la atención al DCA en edad pediátrica con protocolos de actuación específicos y un trabajo coordinado trans- y multidisciplinar.(AU)
Introduction: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. Patients and method: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. Results: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. Conclusion: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.(AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Dano Encefálico Crônico , Guias de Prática Clínica como Assunto , Lesões Encefálicas Traumáticas , Acidente Vascular Cerebral , Pediatria , Estudos Retrospectivos , Estudos TransversaisRESUMO
Introducción: El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora.MétodoSe describen las características epidemiológicas, clínicas, terapéuticas y pronósticas a largo plazo de una cohorte de 20 pacientes españoles.ResultadosLa edad media de debut fue de 21 meses (2-59 meses). La ataxia y el opsoclonus fueron los síntomas de inicio más frecuentes y predominantes en la evolución. El tiempo medio desde los primeros síntomas hasta el diagnóstico fue de 1,1 mes. Un tumor de extirpe neuroblástica fue detectado en el 45%, realizándose resección quirúrgica en siete y quimioterapia en dos pacientes. En el estudio de líquido cefalorraquídeo se constató pleocitosis en cuatro (25%), con negatividad de anticuerpos antineuronales y bandas oligoclonales en todos los casos estudiados. En el 100% se emplearon fármacos inmunomoduladores. En nueve pacientes el tratamiento combinado inmunomodulador se inició desde el momento del diagnóstico, y en cinco el tiempo medio de implementación fue de 2,2 meses. A largo plazo, seis de 10 pacientes con seguimiento superior a cinco años presentaban secuelas cognitivas leves o moderadas; cuatro pacientes presentaron recaídas, generalmente coincidiendo con el descenso de la corticoterapia.ConclusionesEl inicio precoz de la inmunoterapia, así como de la triple terapia en los casos que lo precisaron, se relacionó con una menor frecuencia de afectación cognitiva a los dos años del debut. (AU)
Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.MethodsWe describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.ResultsThe mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.ConclusionsEarly initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. (AU)
Assuntos
Humanos , Imunoterapia , 3-Iodobenzilguanidina , Neuroblastoma , Ataxia , Diagnóstico ClínicoRESUMO
INTRODUCTION: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. PATIENTS AND METHOD: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. RESULTS: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. CONCLUSION: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.
Assuntos
Lesões Encefálicas , Saúde Pública , Humanos , Criança , Adolescente , Estudos Retrospectivos , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/terapia , Lesões Encefálicas/complicações , Hospitalização , Tempo de Internação , Estado Vegetativo PersistenteRESUMO
INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.
Assuntos
Transtornos da Motilidade Ocular , Síndrome de Opsoclonia-Mioclonia , Humanos , Criança , Lactente , Pré-Escolar , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Síndrome de Opsoclonia-Mioclonia/epidemiologia , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Prognóstico , Recidiva Local de Neoplasia/complicações , Progressão da Doença , Ataxia/complicações , Transtornos da Motilidade Ocular/complicaçõesRESUMO
INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos , Epilepsia Tipo Ausência , Erros Inatos do Metabolismo dos Carboidratos/complicações , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/genética , Criança , Humanos , Proteínas de Transporte de Monossacarídeos/deficiência , Proteínas de Transporte de Monossacarídeos/genética , FenótipoRESUMO
Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos: Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos: Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados: Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0,04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones: GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena respuesta a dieta cetogénica. (AU)
Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients ith SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46 mg/dL, P = .04) and CSF/serum glucose ratio (0.4 vs. 0.48, P < .05). [...] (AU)
Assuntos
Humanos , Criança , Erros Inatos do Metabolismo dos Carboidratos/complicações , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/genética , Epilepsia Tipo Ausência , Proteínas de Transporte de Monossacarídeos/deficiência , Proteínas de Transporte de Monossacarídeos/genética , Epilepsia Resistente a Medicamentos , CoreiaRESUMO
INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.
RESUMO
TITLE: Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?
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Encefalite/terapia , Plasmaferese , Criança , Feminino , HumanosRESUMO
TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalopatias/etiologia , Pré-Escolar , Humanos , MasculinoRESUMO
TITLE: Complicaciones neurologicas en casos de bronquiolitis por virus respiratorio sincitial: estado febril y otras manifestaciones neurologicas.
Assuntos
Bronquiolite/complicações , Infecções por Vírus Respiratório Sincicial/complicações , Convulsões/etiologia , Distúrbios do Sono por Sonolência Excessiva/etiologia , Febre/etiologia , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , MasculinoRESUMO
INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs. 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.
RESUMO
TITLE: Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.
Assuntos
DNA Mitocondrial/genética , Complexo I de Transporte de Elétrons/genética , Doença de Leigh/genética , Proteínas Mitocondriais/genética , Mutação de Sentido Incorreto , Mutação Puntual , Blefaroptose/genética , Progressão da Doença , Complexo I de Transporte de Elétrons/fisiologia , Feminino , Retardo do Crescimento Fetal/genética , Gastroenteropatias/genética , Heterogeneidade Genética , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Proteínas Mitocondriais/fisiologia , Oftalmoplegia/genética , Fenótipo , Síndrome de Wolff-Parkinson-White/genéticaRESUMO
TITLE: Sindrome de West secundario a duplicacion patogenica en la citobanda 14q12.
Assuntos
Fatores de Transcrição Forkhead/genética , Duplicação Gênica , Proteínas do Tecido Nervoso/genética , Espasmos Infantis/genética , Feminino , Humanos , LactenteRESUMO
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects. AIM: To present and discuss current knowledge regarding genetic findings in epileptic encephalopathies in infancy, phenotype-genotype correlations in different forms of paediatric epileptic encephalopathies, and the impact of these new findings in clinical practice. DEVELOPMENT: Patients with unclear etiologies after performing a brain magnetic resonance imaging should be considered for a further workup, which should include an evaluation for genetic defects. Nowadays, more than 50 genes have been associated with epileptic encephalopathies in infancy. Targeted next-generation sequencing panels show a high diagnostic yield in patients with epileptic encephalopathies. CONCLUSIONS: Genetic knowledge about epileptic encephalopathies in infancy has revolutionized the diagnostic approach to these disorders, and an increasing number of gene mutations have been related to their pathogenesis. A more detailed classification of epileptic encephalopathies genotypes will improve the accuracy of genotype-phenotype correlation and genetic counseling. All these developments could yield therapeutic applications such as gene therapy or antiepileptic drugs 'tailored' to the specific genetic markers or targets.
TITLE: Encefalopatias epilepticas del lactante: lo prioritario es el estudio genetico.Introduccion. Las encefalopatias epilepticas del lactante constituyen un grupo de entidades donde la actividad epileptica mantenida contribuye por si misma al deterioro neurologico y cognitivo del paciente. Entre ellas se incluyen el sindrome de Ohtahara, la encefalopatia mioclonica precoz, el sindrome de West, el sindrome de Dravet y la epilepsia migratoria maligna del lactante. Estos sindromes se originan por etiologias variadas, incluyendo lesiones estructurales cerebrales, enfermedades metabolicas y heredodegenerativas, y alteraciones geneticas, entre otras. Objetivo. Presentar y discutir el conocimiento actual sobre los hallazgos geneticos en las encefalopatias epilepticas del lactante, el potencial correlato genotipo-fenotipo en las distintas formas de encefalopatias epilepticas y el impacto de estos nuevos hallazgos en la practica clinica. Desarrollo. En los lactantes con encefalopatias epilepticas, sin una etiologia definida tras realizar una resonancia magnetica cerebral, debe considerarse un abordaje etiologico que excluya patologias geneticas. En la actualidad, mas de 50 genes se han asociado con la etiologia de las encefalopatias epilepticas del lactante. Los paneles de multiples genes analizados por tecnicas de secuenciacion masiva son una herramienta util para el diagnostico genetico de estos pacientes. Conclusiones. El conocimiento sobre la genetica de las encefalopatias epilepticas del lactante ha revolucionado el abordaje diagnostico y cada vez se implican mas genes y distintos tipos de mutaciones en la patogenia de estas patologias. El desarrollo de clasificaciones especificas para las encefalopatias epilepticas geneticas puede contribuir a un mejor correlato genotipo-fenotipo, a orientar mejor el consejo genetico y a considerar terapias especificas.
