20 documents found, page 1 of 2
Dravet Syndrome − experience of a Neuropediatric Unit
Figueiredo, Rafael Costa; Rocha, Ruben; Freitas Baptista , Cristina; Santos, Manuela; Figueiroa , Sónia; Carrilho, Inês; Temudo, TeresaIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods...
Dravet Syndrome − experience of a Neuropediatric Unit
Figueiredo Costa, Marcos; Rocha, Ruben; Baptista, Cristina Freitas; Santos, Manuela; Figueiroa, Sónia; Carrilho, Inês; Temudo, TeresaIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods...
A very rare cause of infantile spasms
Fonseca, Margarida Silva; Vieira, Clara; Chorão, Rui; Bandeira, Anabela; Carrilho, InêsPsychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky ha...
Cardiac phenotype in ATP1A3-related syndromes
Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, MelissaObjective: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. Methods: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were in...
A very rare cause of infantile spasms
Fonseca, Margarida Silva; Vieira, Clara; Chorão, Rui; Bandeira, Anabela; Carrilho, InêsPsychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky ha...
Anti-N-Methy-D-Aspartate receptor encephalitis in pediatric age
Branco, Mariana Amorim; Sousa, Luísa; Garrido, Cristina; Carrilho, Inês; Santos, Manuela; Temudo, Teresa; Martins Silva, Ana; Figueiroa, SóniaIntroduction: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated syndrome characterized by psychiatric symptoms, movement disorders, insomnia, seizures, altered level of consciousness and autonomic dysfunction. The aim of this study was described the cases of anti-NMDAR encephalitis admitted to a Neuropediatrics Department, in order to alert for the importance of early recognition of ...
Treatment of acute migraine and status migrainosus in pediatrics
Azevedo Alves, Raquel; Lopes, Marta; Rocha, Ruben; Carrilho, InêsMigraine is the most common acute and recurrent headache syndrome in children and adolescents but is often underdiagnosed. Migraine diagnosis in childhood rests on criteria similar to those used in adults but with some particularities, as duration of the attack, which is often much shorter than in adults, and location of the attack, which in many children may be bilateral. Despite its high prevalence, pediatric...
Fenitoína – fronteiras do tratamento
Antunes, Joaquina; Araújo, Luísa Neiva; Carrilho, Inês; Soares, Paula; Proença, ElisaIntrodução: As crises convulsivas são manifestações clínicas frequentes no período neonatal. Continua pouco claro qual a melhor abordagem terapêutica, não existindo ainda consenso entre os diversos protocolos. A terapêutica antiepilética usada tradicionalmente é, muitas vezes, pouco eficaz e pode originar efeitos secundários importantes. Caso Clínico: Apresenta-se o caso clínico de um recém-nascido que iniciou ...
Marcha em pontas idiopática em idade pediátrica
Domingues, Sara; Melo, Cláudia; Magalhães, Catarina; Figueiroa, Sónia; Carrilho, Inês; Temudo, TeresaA marcha em pontas tem uma incidência de 7-24% na população pediátrica em geral e é uma causa relativamente frequente de referenciação à consulta de neurologia pediátrica. A marcha em pontas idiopática ocorre em crianças saudáveis, sem espasticidade e com reflexos osteotendinosos normais; é evidente desde o início da marcha autónoma, sempre bilateral e não progressiva. A sua etiologia é desconhecida, pelo que s...
Encefalomielite aguda disseminada – pós-infecção por Herpes Vírus 6
Amorim, Joana; Guerra, Isabel Couto; Lima, Rosa; Cunha, José; Carrilho, Inês; Ramos, AnaIntrodução: A encefalomielite aguda disseminada (ADEM) é uma doença desmielinizante monofásica do sistema nervoso central (SNC) imunomediada. O quadro clínico inicial pode ser inespecífico, mas traduz geralmente envolvimento da substância branca em várias localizações do SNC, sendo a ressonância magnética (RM) do neuroeixo o exame complementar de diagnóstico de eleição. Caso clínico: Criança com 16 meses, inter...