7 documents found, page 1 of 1
Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético
Martins, R; Moldovan, O; Sousa, AB; Levy, A; Quintas, SINTRODUCTION: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epilept...
Síndrome de hemiconvulsión-hemiplejía-epilepsia: caso clínico y uso de dextrome...
Coelho, J; Santos, T; Ezequiel, M; Luis, C; Levy, A
Neurodevelopmental Outcome Predictors of Term Newborns With Neonatal Seizures
Martins, R; Coelho, J; Santos, T; Moreno, T; Quintas, S; Levy, AIntroduction: The concrete burden of neonatal seizures in neurodevelopmental outcome of term newborns is still unknown in literature. The aim of this study was to describe prognostic predictors in neonatal seizures. Subjects and methods: Observational prospective study of term neonates with clinical seizures from a tertiary center (2009-2018). Adverse outcome was determined as death, global developmental delay,...
Extensive Linear Scleroderma en Coup De Sabre With Exertion-Induced Hemiplegic ...
Martins, M; Quintas, S; Coelho, J; Santos, T; Levy, AWe report the case of a 9-year-old girl with linear scleroderma en coup de sabre (LSCS) who developed progressive white matter involvement, presenting as intractable hemiplegic migraine-like attacks induced by exercise. After a period of severely aggressive course, clinical and radiological stabilization was achieved under immunosuppressant treatment. Intrathecal synthesis of IgG and lymphocytic pleocytosis pro...
Hemiconvulsion-hemiplegia-epilepsy Syndrome: Case Report and Use of Dextrometho...
Coelho, J; Santos, T; Ezequiel, M; Luís, C; Levy, A
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine...
Temudo, T; Santos, M; Ramos, E; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G; Levy, A; Barbot, C; Fonseca, M; Cabral, ABackground: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87...
A Ressonância Magnética no Diagnóstico Pré-Natal de Anomalias do SNC. A Propósi...
Grilo, I; Machado, AI; Cohen, A; Correia, J; Ribeiro, C; Goulão, A; Levy, AA ressonância magnética nuclear (RMN) é um meio complementar de diagnóstico que só recentemente começou a ser utilizado na investigação de patologia fetal. São enormes as suas potencialidades sobretudo no esclarecimento de dificuldades de diagnóstico suscitadas pela ecografia e perante situações de risco acrescido de anomalias congénitas do sistema nervoso central. Os autores efectuaram uma avaliação retrospect...