The progressive myoclonic epilepsies (PME) are a rare group of inherited neurodegenerative diseases with debilitating evolution, resistance to treatment and poor prognosis. However, advances in molecular genetics have enabled better understanding of the pathogenesis of these diseases, bringing hope for improved treatment options in the future. This manuscript is an overview of the clinical and molecular findings in patients with PME. Furthermore, it describes therapeutic approaches that are currently recommended in the literature.
Febrile seizures are a benign condition of childhood, and most children will have only one episode in their lifetime. Nevertheless, any seizure is a cause of major concern in the patient's family, and there is much discussion in the literature on when and whether to treat febrile seizures, as well as on what constitutes the best therapeutic approach. This review summarizes the current evidence and recommendations for diagnosis and management of patients with febrile seizures
SUMMARYNeurological deterioration in children with diabetic ketoacidosis (DKA) is commonly caused by cerebral edema. However, subtle cerebral injuries including strokes should also be suspected, since children with hyperglycemia and DKA are prone to thrombosis. In this paper, a case involving a 2 month-old patient that presented cerebral edema and stroke as complications of DKA is reported. In the discussion, the literature on neurological complications of DKA in children is briefly reviewed, emphasizing the prothrombotic tendency of these patients. Arq Bras Endocrinol Metab. 2011;55(4):288-90
SUMÁRIOAlterações neurológicas em crianças com cetoacidose diabética (CAD) são comuns, sobretudo em decorrência de edema cerebral. Contudo, lesões cerebrais agudas, como acidente vascular cerebral (AVC), também devem ser investigadas, já que as crianças com hiperglicemia e cetoacidose têm maior chance de apresentar essa complicação. Neste relato, descreve-se a história de um paciente de 2 meses de idade que apresentou edema cerebral e AVC como complicações de um quadro de cetoacidose diabética. Durante a discussão, será feita uma breve revisão da literatura sobre as complicações neurológicas da CAD nos pacientes pediátricos enfatizando sua tendência pró-trombótica. Arq Bras Endocrinol Metab. 2011;55(4):288-90 clinical case report
As epilepsias mioclônicas progressivas (EMP) são um grupo raro de epilepsias de evolução debilitante e prognóstico ruim. Seu desafio reside na dificuldade do diagnóstico etiológico e na ausência de um tratamento específico para cada entidade. Apesar disso, avanços recentes na área de genética molecular vêm possibilitando melhor compreensão da etiopatogenia e diagnóstico dessas doenças. Neste trabalho, revisamos os conhecimentos atuais a respeito das EMP com ênfase nos aspectos clínicos e genéticos.
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