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Síndromes de Deficiência Cerebral de Creatina

Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity. They are characterized by low levels of cerebral creatine caused by different pathogenic mutations concerning the genes coding for creatine synthesis enzymes [arginine: glicyne amidino...

Síndrome de Miller Fisher numa criança

Introdução: O síndrome de Miller Fisher, variante do síndrome de Guillain-Barré, é uma doença desmielinizante inflamatória aguda, que é rara em idade pediátrica. O seu diagnóstico é baseado na tríade oftalmoplegia, ataxia e arreflexia. Em cerca de metade dos casos está descrita uma intercorrência infecciosa precedendo os sintomas neurológicos em cinco a dez dias. Caso clínico: Os autores relatam o caso de uma c...

Score de LOES na adrenoleucodistrofia: indicações para transplante de medula ós...

Doenças Neuromusculares na Idade Pediátrica em Portugal - Estudo Preliminar

Caso Neurológico: Síndrome de Joubert

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

Abstract BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has alre...

Mutation spectrum and phenotypes of thirty Portuguese families with autosomal r...

A group of 65 patients, comprising 59 apparently unrelated families, were screened for mutations in the sarcoglycan (SG) genes, as well as in the CANP3 and DYSF genes. A total of 30 families(36 patients) were characterized at the molecular level and found to fall into the following groups: 4, LGMD2A; 15, LGMDC; 8, LGMD2D; 3, LGMD2E. Four new mutations were identi®ed: two in the a-SG and two in the b-SG genes. O...