RESUMO
BACKGROUND: Cyclosporine A (CSA) is an immunosuppressant agent widely used in severe atopic dermatitis (AD). However, experience in children is limited. OBJECTIVES: To assess the efficacy and adverse events of CSA therapy in children. METHODS: Retrospective study of children with severe AD treated with CSA between January 2009 and December 2015. RESULTS: Data from 63 patients were collected. Mean age at the beginning of treatment was 8.4 years (±3.6). The median starting dose was 4.27 (±0.61) mg/kg/day. After 4 weeks of treatment, the outcome was excellent in 35% of cases, good in 29% and poor in 36% of the patients. The response was better in patients without eosinophilia (P < 0.05). The median duration of treatment was 4.6 months (range 1.5-21.6). Side-effects were frequent but mild, being more common in patients after longer treatment periods (P < 0.05). Mean time of follow-up was 19.4 months (±12.7). Prolonged remission (>6 months) was observed in 13 patients (20%). LIMITS: This is a retrospective review. The follow-up period is limited. CONCLUSIONS: Our data confirm that CSA is efficacious and acts rapidly in the majority of children with severe AD. CSA therapy can provide sustained remission in some patients. CSA seems to be well tolerated in children, but strict monitoring is mandatory.
Assuntos
Ciclosporina/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Criança , Pré-Escolar , Ciclosporina/efeitos adversos , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVES: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. PATIENTS AND METHODS: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. RESULTS: Twenty-nine patients with Bell's palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). CONCLUSION: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.
TITLE: Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.Objetivos. Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos. Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados. Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión. Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.
Assuntos
COVID-19 , Paralisia Facial , Adolescente , Adulto , COVID-19/complicações , COVID-19/epidemiologia , Criança , Nervo Facial , Paralisia Facial/epidemiologia , Paralisia Facial/etiologia , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2RESUMO
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.
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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
INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.
TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.
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Esclerose Tuberosa/epidemiologia , Adolescente , Angiomiolipoma/tratamento farmacológico , Angiomiolipoma/genética , Criança , Pré-Escolar , Diagnóstico Precoce , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Everolimo/uso terapêutico , Neoplasias Oculares/genética , Feminino , Hamartoma/genética , Neoplasias Cardíacas/genética , Humanos , Lactente , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/genética , Masculino , Estudos Retrospectivos , Rabdomioma/genética , Neoplasias Cutâneas/genética , Avaliação de Sintomas , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologiaRESUMO
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
INTRODUCTION: Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord. AIM: To describe the clinical characteristics of a series of patients with syringomyelia, as well as its diagnosis and treatment. PATIENTS AND METHODS: We conducted a retrospective descriptive study by reviewing the medical records at our centre. RESULTS: We reviewed 25 patients diagnosed with syringomyelia. In five cases, the diagnosis was reached casually, and eight of them presented a previous severe pathology (tumour, bone or vascular). Two patients began with hydrocephalus and clinical signs and symptoms of intracranial hypertension and just two of them reported headaches as the only symptom. Four presented progressive scoliosis, two of them as the initial complaint, and required surgery with arthrodesis and the use of a corset, respectively. A notable feature was the earliness of the diagnosis. Most of them only presented a slight loss of strength, with normal somatosensory potentials and electromyogram. Check-ups were carried out with magnetic resonance. Eight patients required a decompressive craniectomy with posterior C1-C2 laminectomy, with drainage of the syringomyelic cavity in four cases. Nine of them required a bypass valve and a ventriculostomy also had to be performed in two of them. CONCLUSIONS: The presence of syringomyelia is rare in paediatric patients, and is generally associated with malformations in the posterior fossa and a medical history of spinal dysrhaphism. Progressive scoliosis stands out as a possible isolated manifestation. A multidisciplinary approach with regular radiological check-ups and evaluation by paediatric neurology and neurosurgery services are mandatory for its follow-up.
TITLE: Siringomielias en pediatria: estudio retrospectivo de 25 casos.Introduccion. Se define siringomielia como una cavidad que contiene liquido cefalorraquideo dispuesta en el interior de la medula espinal. Objetivo. Describir las caracteristicas clinicas de una serie de pacientes con siringomielia, su diagnostico y tratamiento. Pacientes y metodos. Estudio descriptivo retrospectivo realizado mediante la revision de historias clinicas en nuestro centro. Resultados. Se revisaron 25 pacientes diagnosticados de siringomielia. En cinco el diagnostico fue casual y ocho presentaban una patologia grave previa (tumoral, osea o vascular). Dos pacientes comenzaron con hidrocefalia y clinica de hipertension intracraneal y unicamente dos destacaban cefalea como unico sintoma. Cuatro presentaron escoliosis progresiva, dos de ellos como queja inicial, y precisaron cirugia con artrodesis y uso de corse, respectivamente. Destaca la precocidad del diagnostico. La mayoria presentaba unicamente perdida de fuerza leve, con potenciales somatosensoriales y electromiograma normales. En todos se hicieron controles con resonancia magnetica. Ocho pacientes precisaron craniectomia descompresiva con laminectomia posterior C1-C2, con drenaje de la cavidad siringomielica en cuatro. Nueve requirieron valvula de derivacion y dos precisaron, ademas, ventriculostomia. Conclusiones. La presencia de siringomielia en pediatria es rara, y se asocia generalmente a malformaciones en la fosa posterior y antecedentes de disrafismo espinal. Destaca la escoliosis progresiva como posible manifestacion aislada. Un abordaje multidisciplinar con controles radiologicos seriados y la valoracion por servicios de neurologia y neurocirugia pediatricos son mandatorios para su seguimiento.
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Siringomielia/diagnóstico , Siringomielia/patologia , Siringomielia/terapia , Criança , Cefaleia , Humanos , Hidrocefalia/etiologia , Laminectomia , Estudos RetrospectivosRESUMO
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
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: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.