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O protocolo de actuação na Síndrome de Guillain-Barré em idade pediátrica foi elaborado com o intuito de rever as mais recentes recomendações internacionais e de traçar linhas orientadoras de actuação. É constituído por duas partes: a primeira é a introdução teórica, resultante da revisão bibliográfica, e a segunda o Protocolo de actuação. Tratando-se de uma patologia para a qual ainda não existe um consenso, sobretudo no que respeita ao tratamento, optou-se por incluir as várias opções de tratamento recomendadas, permitindo a cada Unidade aplicar aquela com a qual possui mais experiência., Portuguese Journal of Pediatrics, Vol 42 No 1 (2011)

O protocolo de actuação na Síndrome de Guillain-Barré em idade pediátrica foi elaborado com o intuito de rever as mais recentes recomendações internacionais e de traçar linhas orientadoras de actuação. É constituído por duas partes: a primeira é a introdução teórica, resultante da revisão bibliográfica, e a segunda o Protocolo de actuação. Tratando-se de uma patologia para a qual ainda não existe um consenso, sobretudo no que respeita ao tratamento, optou-se por incluir as várias opções de tratamento recomendadas, permitindo a cada Unidade aplicar aquela com a qual possui mais experiência.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2012-07-10T13:55:06Z No. of bitstreams: 1 SindromeDeEncefalopatia_NeC_17-4.pdf: 164191 bytes, checksum: fbaecbd2c6e516dc8f8b9ca0559ae6f7 (MD5) Made available in DSpace on 2012-07-10T13:55:06Z (GMT). No. of bitstreams: 1 SindromeDeEncefalopatia_NeC_17-4.pdf: 164191 bytes, checksum: fbaecbd2c6e516dc8f8b9ca0559ae6f7 (MD5) Previous issue date: 2008-12

A Síndrome de Encefalopatia Posterior Reversível (PRES) é uma entidade rara descrita inicialmente em adultos e cada vez mais diagnosticada em crianças. Clinicamente manifesta-se por cefaleias, alteração do estado de consciência e convulsões. Os achados típicos da ressonância magnética (RMN) contribuem para o diagnóstico. A sintomatologia e as alterações radiológicas são completamente reversíveis, quando corrigida atempadamente a causa subjacente. Os autores apresentam um caso clínico de uma criança, sexo masculino, com 8 anos e 9 meses de idade, transferida da Unidade de Cuidados Intensivos para o Serviço de Pediatria com traumatismo craneo-encefálico (TCE) grave. Durante o internamento verificaram-se valores tensionais persistentemente superiores ao P95 e ao 10º dia de internamento, na sequência de uma TAC cerebral de controle, observaram-se lesões de novo, hipodensidades parieto-occipitais bilaterais, sem restrição à difusão das moléculas de água na RMN, sugestivas de edema vasogénico - PRES. Após controlo da hipertensão arterial verificou-se regressão completa das lesões cerebrais. Os autores pretendem com este caso clínico alertar para esta entidade clinico-radiológica reversível, salientando a necessidade de diagnóstico atempado e tratamento precoce da causa subjacente para evitar danos neurológicos irreversíveis. ABSTRACT The Posterior Reversible Encephalopathy Syndrome (PRES) is a rare entity described initially in adults and observed more and more in children. Clinically, patients have headaches, alteration of the level of conscience and seizures. The typical findings in the magnetic resonance (MRI) contribute to the diagnosis. When promptly recognized and treated the underlying cause, the symptoms and radiologic abnormalities can be completely reversible. The authors present a clinical case of a child, male, with 8 years and 9 months of age, admitted in the Pediatric Department with a traumatic brain injury, with serious neurological defi cits. During hospitalization, tensional values became persistently > P95 and on a brain CT scan of control, new lesions were observed as bilateral hypodensities in parietal and occipital lobes, without restriction of the diffusion of the molecules of water on MRI, suggestive of vasogenic edema - PRES. Complete regression of the cerebral lesions were observed after control of the hypertension. With this clinical case the authors want to alert for this reversible clinic-radiologic entity, pointing out the need of an early diagnosis and treatment of the underlying cause to avoid irreversible neurological damages.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2012-07-05T21:42:29Z No. of bitstreams: 1 DissecaçãoDaAAarteria_NeC_17-3_Web.pdf: 153570 bytes, checksum: e78c0e42b997fb9b1460a4b9e1e93299 (MD5) Made available in DSpace on 2012-07-05T21:42:30Z (GMT). No. of bitstreams: 1 DissecaçãoDaAAarteria_NeC_17-3_Web.pdf: 153570 bytes, checksum: e78c0e42b997fb9b1460a4b9e1e93299 (MD5) Previous issue date: 2008-09

O AVC em idade pediátrica é uma situação pouco frequente, representando a dissecção arterial uma pequena percentagem da sua etiologia. Os autores apresentam o caso de um adolescente com AVC isquémico provocado por dissecção da artéria vertebral. A sintomatologia incluiu cefaleias acompanhadas de náuseas e vómitos, tonturas, alteração do estado de consciência, discurso lentificado e flexão cervical intermitente. Após o diagnóstico iniciou terapêutica anticoagulante com melhoria da sintomatologia, mas manteve dificuldade em despertar e dificuldade de evocação. São discutidas a investigação e o tratamento nesta patologia. ABSTRACT Cerebrovascular disease in paediatric age is infrequent and arterial dissection is responsible for a small percentage of its aetiology. The authors present an adolescent with a cerebrovascular ischemic event caused by vertebral artery dissection. The symptoms included headache with nausea and vomiting, dizziness, conscience impairment, slowed speech and intermittent cervical flexion. After the diagnosis, he began anticoagulant therapy with symptom improvement, but maintenance of difficulty in arousal and in evocation. Investigation and treatment in this pathology are discussed.

Submitted by José Pereira (jro.pereira@gmail.com) on 2010-12-28T13:22:00Z No. of bitstreams: 1 Tics en niños y adolescentes.pdf: 118222 bytes, checksum: e58bc00ed405aebf5bcdb93bbf1fb341 (MD5) Made available in DSpace on 2010-12-28T13:22:00Z (GMT). No. of bitstreams: 1 Tics en niños y adolescentes.pdf: 118222 bytes, checksum: e58bc00ed405aebf5bcdb93bbf1fb341 (MD5) Previous issue date: 2007-02

Introducción Los tics son el trastorno del movimiento más frecuente en la edad pediátrica. Es común la existencia de historia familiar de tics y de antecedentes familiares y personales de trastornos neurocomportamentales. Los tics pueden comprometer de modo importante las actividades de la vida diaria del individuo. Objetivo Estudio de las características de los tics de niños y adolescentes de la Consulta de Neuropediatría del Hospital Geral de Santo António. Materiales y métodos Análisis retrospectivo de los casos de tics usando la información recogida de las respectivas historias clínicas. Se utilizaron los criterios del Manual diagnóstico y estadístico de los trastornos mentales en su cuarta revisión de textos (DSM-IV-TR) de 2000, de la Asociación Americana de Psiquiatría. Resultados Fueron analizadas las historias clínicas de 78 individuos, 84,6 % de los cuales eran del sexo masculino. Más de un tercio de los casos pertenecía al grupo etario de los 4 a los 8 años de edad. En el 5,1% los tics se iniciaron antes de los 2 años. Historia familiar de tics, depresión y trazos de enfermedad obsesivo-compulsiva ocurrieron en aproximadamente un 30 % de los casos. La comorbilidad más frecuente fue el trastorno por déficit de atención e hiperactividad (TDAH) (67,9%). Se verificó la posible ocurrencia de trastorno neuropsiquiátrico autoinmune pediátrico (PANDAS) en 5 casos. Los tics motores precedieron a los vocales en todos los casos. En más de dos tercios los tics eran simples. En el 59,0 % de los casos los tics eran crónicos, y el 45,7 % de éstos cumplían criterios de trastorno de Gilles de la Tourette. El 43,1 % de los individuos con tics crónicos habían sido medicados, la mayoría con risperidona. Conclusiones De un modo general los resultados de este estudio son concordantes con los descritos en la literatura especializada, subrayándose la necesidad de considerar el diagnóstico en edades precoces, y señalándose la importancia de identificación y terapéutica adecuada de las comorbilidades.Introduction Tics are the most frequent abnormal movement in children. A familial history of tics and a personal and familial history of neurobehavioral disturbances are common in children with this abnormality. Tics may seriously compromise daily activities in affected individuals. Objective To identify the characteristics of tics in children and adolescents followed-up in the Neuropediatric Unit of the Hospital Geral de Santo António. Materials and methods We performed a retrospective analysis of patients with tics based on information collected from medical records. The diagnostic criteria of the DSM IV-TR 2000 of the American Psychiatric Association were used. Results The medical records of 78 children were analyzed, 84.6% of whom were boys. More than one third of the patients were aged 4 to 8 years old. In 5.1% of the patients tics developed before the age of 2 years. A familial history of tics, depression and obsessive disorder traits was found in approximately 30 % of patients. The most frequent comorbidity was attention deficit hyperactivity disorder (67.9 %). The occurrence of pediatric autoimmune neuropsychiatric disorders associated with streptococcus infection (PANDAS) was suggested in five patients. In all patients, motor tics occurred before vocal tics. In more than two thirds of the patients, tics were simple. In 59.0% of the patients, tics were chronic, and in 45.7% of these met the criteria for Tourette’s syndrome. A total of 43.1% of the patients with chronic tics received pharmacotherapy, risperidone being the most frequently used drug. Conclusions In general the results of the present study are in agreement with those of previous studies, underlining the need to consider a diagnosis of tics in young children and highlighting the importance of identification and appropriate treatment of comorbidities.

RESUMO Os tiques são o distúrbio do movimento mais comum em crianças e adolescentes. São mais frequentes no sexo masculino que no feminino, e podem começar a manifestar-se já no primeiro ano de vida. O espectro de gravidade dos tiques é muito amplo, podendo passar praticamente despercebidos ou, pelo contrário, apresentar evidentes repercussões negativas nos vários aspectos da vida dos doentes. A sua associação a distúrbios neurocomportamentais como a perturbação de hiperactividade e défice de atenção, comportamentos obsessivocompulsivos e dificuldades de aprendizagem é frequente, aspecto que deverá ser tido em conta aquando do estabelecimento do plano terapêutico. Os autores apresentam uma revisão teórica versando os Transtornos de Tiques, na qual incluem a sua abordagem terapêutica, considerando a existência de co-morbilidade(s). ABSTRACT Tics are the commonest movement disorders in children and adolescents. They are more frequent in boys and can occur in the first year of life. The clinical spectrum is too large, being of little significance, or otherwise associated with negative repercussions in patients’ lives. Their possible association with neurocomportamental disturbs, such as attention deficit/ hyperactivity disorder, obsessive- compulsive disorder and learning disabilities, deserves special attention when a management plan is established. The authors present a tics review, including therapeutic management, considering associated co morbidities.

Submitted by Dulce Barreto (mdulce.barreto@chlc.min-saude.pt) on 2013-11-13T17:52:33Z No. of bitstreams: 1 Sinapse 2006_6_111.pdf: 823269 bytes, checksum: 20779c3e9416cfb5c675c2b4dea91aa1 (MD5) Made available in DSpace on 2013-11-13T17:52:33Z (GMT). No. of bitstreams: 1 Sinapse 2006_6_111.pdf: 823269 bytes, checksum: 20779c3e9416cfb5c675c2b4dea91aa1 (MD5) Previous issue date: 2006

Submitted by lara martins (laramartins.defi@chporto.min-saude.pt) on 2012-01-18T14:44:11Z No. of bitstreams: 1 TiquesEmCriancas_15-3_Web.pdf: 90348 bytes, checksum: b46b9883aec276e739b512e7c3f93ba9 (MD5) Made available in DSpace on 2012-01-18T14:44:11Z (GMT). No. of bitstreams: 1 TiquesEmCriancas_15-3_Web.pdf: 90348 bytes, checksum: b46b9883aec276e739b512e7c3f93ba9 (MD5) Previous issue date: 2006

International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals. Sporadic patients had epilepsy with median onset at age 7 months and in 36% the first seizure occurred during a febrile illness. Overall, considering familial and sporadic patients, the predominant phenotypes were mild, including genetic generalized epilepsies and genetic epilepsy with febrile seizures plus (GEFS+) spectrum. About 20% manifested neonatal/infantile onset otherwise unclassified epileptic encephalopathy. The study also included eight patients with variants of unknown significance: one adopted patient had two HCN1 variants, four probands had intellectual disability without seizures, and three individuals had missense variants inherited from an asymptomatic parent. Of the 18 novel pathogenic missense variants identified, 12 were associated with severe phenotypes and clustered within or close to transmembrane domains, while variants segregating with milder phenotypes were located outside transmembrane domains, in the intracellular N- and C-terminal parts of the channel. Five recurrent variants were associated with similar phenotypes. Using whole-cell patch-clamp, we showed that the impact of 12 selected variants ranged from complete loss-of-function to significant shifts in activation kinetics and/or voltage dependence. Functional analysis of three different substitutions altering Gly391 revealed that these variants had different consequences on channel biophysical properties. The Gly391Asp variant, associated with the most severe, neonatal phenotype, also had the most severe impact on channel function. Molecular dynamics simulation on channel structure showed that homotetramers were not conducting ions because the permeation path was blocked by cation(s) strongly complexed to the Asp residue, whereas heterotetramers showed an instantaneous current component possibly linked to deformation of the channel pore. In conclusion, our results considerably expand the clinical spectrum related to HCN1 variants to include common generalized epilepsy phenotypes and further illustrate how HCN1 has a pivotal function in brain development and control of neuronal excitability.