RESUMO
Introducción El síndrome de pseudotumor cerebri (SPTC) en pacientes prepuberales presenta características que lo diferencian respecto a su presentación en la etapa pospuberal. Nuestro objetivo es describir las características de los pacientes diagnosticados de SPTC pediátrico en nuestro centro y compararlas en función de su estado puberal. Pacientes y métodos Se incluyeron a los pacientes diagnosticados de SPTC en un hospital de tercer nivel entre los años 2006 y 2019 con edades comprendidas entre uno y 18 años que cumplieran los criterios diagnósticos actualizados del SPTC. Se clasificaron en función de su estado puberal y peso corporal. Posteriormente, se analizaron los datos de las punciones lumbares, estudios de neuroimagen, valoraciones oftalmológicas, así como el régimen terapéutico recibido a lo largo de su seguimiento. Resultados Se recogieron 28 pacientes, 22 prepuberales y seis pospuberales, con edad media de 9,04 ± 2,86 años. El 83,3% de los pacientes pospuberales eran varones presentando sobrepeso/obesidad en el 66,7%. Eran varones el 27% de los pacientes prepuberales, de ellos asociaban sobrepeso el 31,8%. La sintomatología más frecuente fue cefalea (89,9%) y visión borrosa (42,9%). Todos los pacientes presentaron papiledema; un 21,4% de los casos presentaron parálisis del VI par. Se identificó un posible desencadenante en un 28,6%. El 19% presentaron recurrencia clínica, siendo todos ellos prepuberales. La resolución clínica completa se produjo en el 55,6% de los pacientes. Conclusión Pacientes con SPTC presentan menor prevalencia de obesidad en la etapa prepuberal, junto con un mayor porcentaje de etiologías secundarias y tasa de recurrencia que los pacientes pospuberales. (AU)
Introduction Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. Patients and methods We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. Results We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. Conclusion Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients. (AU)
Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Pseudotumor Cerebral , Obesidade , Puberdade , Estudos Longitudinais , Estudos RetrospectivosRESUMO
INTRODUCTION: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. PATIENTS AND METHODS: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. RESULTS: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. CONCLUSION: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.
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Pseudotumor Cerebral , Masculino , Humanos , Criança , Lactente , Pré-Escolar , Adolescente , Feminino , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/epidemiologia , Sobrepeso/complicações , Estudos Retrospectivos , Prognóstico , Obesidade/complicaçõesRESUMO
INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.
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Atrofia Muscular Espinal , Doenças Neurodegenerativas , Criança , Consenso , Técnica Delphi , Humanos , Recém-Nascido , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/terapia , EspanhaRESUMO
INTRODUCTION: Neuromuscular diseases include a large group of heterogeneous and rare pathologies that affect different components of the motor unit. It is essential to optimize resources to know the prevalence of comorbidities in the most frequent groups to establish an early multidisciplinary approach in a specialized setting. PATIENTS AND METHODS: Retrospective descriptive study of pediatric and adolescent patients with neuromuscular diseases (NMDs). The Inclusion criteria were NMDs patients with motor neuron involvement divided into three groups, depending on the affected component of the motor unit. Group I: involvement of the motor neuron; Group II: peripheral neuropathies; Group III: myopathies. Demographic variables, association with comorbidities, need for respiratory support, and rehabilitative treatment were collected in each group. RESULTS: Ninety-six patients who met the inclusion criteria were studied. In group I, when compared to the other two groups, a higher incidence of scoliosis (68.3%, p = 0.011), deformity of the rib cage (31.3%, p = 0.0001), chronic respiratory insufficiency (62.5%, p = 0.001) and bronchial aspiration (12.5%, p = 0.03) was detected. In this group, 50%of the patients required non-invasive mechanical ventilation (p = 0.0001). The in-hospital requirement for respiratory physiotherapy was higher in group I (75%, p = 0.001). We observed a higher incidence of scoliosis in Group III compared to Group II. CONCLUSIONS: Neuromuscular diseases with motor neuron involvement present more comorbidities and require an early approach after diagnosis to improve prognosis.
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Doenças Neuromusculares/epidemiologia , Adolescente , Criança , Comorbidade , Feminino , Humanos , Masculino , Doenças Neuromusculares/terapia , Ventilação não Invasiva/estatística & dados numéricos , Insuficiência Respiratória/epidemiologia , Insuficiência Respiratória/terapia , Terapia Respiratória/estatística & dados numéricos , Estudos Retrospectivos , Costelas/anormalidades , Escoliose/epidemiologiaRESUMO
INTRODUCTION: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. PATIENTS AND METHODS: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. RESULTS: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. CONCLUSION: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.
RESUMO
TITLE: Neuropatia craneal multiple: descripcion de tres pacientes pediatricos.
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Doenças dos Nervos Cranianos/diagnóstico , Criança , Feminino , Humanos , MasculinoRESUMO
TITLE: Microcefalia primaria hereditaria de tipo 5. No todo es virus del Zika.
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Microcefalia/diagnóstico , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Infecção por Zika virus/diagnósticoRESUMO
INTRODUCTION: Neurological complications (NC) are a significant cause of morbidity and mortality in paediatric patients receiving solid organ transplants. Our aim was to describe the experience of our hospital with NC in paediatric patients receiving heart, lung and liver transplants. PATIENTS AND METHODS: A retrospective study was conducted on 140 paediatric patients who received a solid organ transplant during the period 2000-2011. RESULTS: A total of 23 paediatric solid organ transplant recipients (16.4% of cases), with a median age of 6 years, had NC. The symptoms were, in order of frequency: acute symptomatic seizures (12 patients); acute encephalopathy (11 patients); neuromuscular weakness (4 children), tremor (4 children), headache (2 children), neuropathic pain (2 children), and visual disturbances (2 children). The aetiologies of NC were: the neurotoxicity of the immunosuppressive drugs (12 patients), post-hypoxic-ischaemic encephalopathy (6 patients), infections (2 cases), mechanical compression of peripheral nerve during surgery (2 cases), and a metabolic complication (1 case). The five patients who met the criteria of posterior reversible encephalopathy syndrome had a favourable outcome. Seven patients died, four of them due to hypoxic-ischaemic encephalopathy. CONCLUSIONS: NC are common in paediatric patients receiving heart, liver, lung, and renal transplants, with acute symptomatic seizures and acute encephalopathy being the most common clinical signs. No differences were found in the NC with the different types of transplants. Neurotoxicity of the immunosuppressive drugs and hypoxic-ischaemic encephalopathy were the main causes of NC, having different management and outcomes. The prognosis was favourable in most of the patients, except for those who had moderate or severe post-hypoxic-ischaemic damage.