Encontrados 14 documentos, a visualizar página 1 de 2
Prognostic Factors Associated with Disability in a Cohort of Neuromyelitis Opti...
Moura, João; Samões, Raquel; Sousa, Ana Paula; Figueiroa, Sónia; Mendonça, Teresa; Abreu, Pedro; Guimarães, Joana; Melo, Claúdia; Sousa, RaquelIntroduction: Neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated disease (MOGAD) are an increasingly recognized group of demyelinating disorders of the central nervous system. Previous studies suggest that prognosis is predicted by older age at onset, number of relapses, the severity of the first attack and autoantibody status. Objective: To study prognostic factors associated with disability pr...
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and...
Abreu, Maria; Branco, Tiago; Figueiroa, Sónia; Falcao Reis, Claudiantellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD4...
One silence, different clinical pictures
Magalhães, Patricia; Marques, Mafalda; Martins, Vânia; Chorão, Rui; Figueiroa, SóniaLandau Kleffner syndrome (LKS) is a rare epileptic encephalopathy characterized by acquired receptive and expressive aphasia and epileptic seizures in a previously normal child. The diagnosis can be challenging and commonly mistaken with other clinical pictures, namely emotional conditions, mainly when identifiable triggers are present in the patient’s history. The authors present the case of a four-year-old Po...
Plasmapheresis in acute disseminated encephalomyelitis associated with anti-MOG...
Soares, Joana; Figueiredo, Rafael; Pinto, Eduarda; Cardoso, Ana Lúcia; Sarmento, Alzira; Sameiro Faria, Maria; Figueiroa, Sónia; Ferreira, PaulaAcute disseminated encephalomyelitis (ADEM) is an acute demyelinating disorder of the central nervous system. ADEM should be suspected when a patient develops multifocal neurologic abnormalities with encephalopathy, especially if occurring after a viral infection or immunization. In this study, the authors describe two cases of ADEM with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibodies requiri...
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...
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 ...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, JoaquimHigh resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
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...