Revista de neurologia
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Revista de neurologia · May 2012
Review[Video electroencephalographic diagnosis of epileptic and non-epileptic paroxysmal episodes in infants and children at the pre-school age].
The main usefulness of video electroencephalographic (video-EEG) monitoring lies in the fact that it allows proper classification of the type of epileptic seizure and epileptic syndrome, identification of minor seizures, location of the epileptogenic zone and differentiation between epileptic seizures and non-epileptic paroxysmal manifestations (NEPM). In infants and pre-school age children, the clinical signs with which epileptic seizures are expressed differ to those of older children, seizures with bilateral motor signs such as epileptic spasms, tonic and myoclonic seizures predominate, and seizures with interruption of activity or hypomotor seizures, and no prominent automatisms are observed. In children with focal epilepsies, focal and generalised signs are often superposed, both clinically and in the EEG. ⋯ NEPM are often observed in children with mental retardation, neurological compromise or autism spectrum disorders, who present epileptic seizures and epileptiform abnormalities in the baseline EEG. It then becomes necessary to determine which episodes correspond to epileptic seizures and which do not. The NEPM that are most frequently registered in the video-EEG in infants and pre-school age children are unexpected sudden motor contractions ('spasms'), introspective tendencies, motor stereotypic movements and paroxysmal sleep disorders.
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Revista de neurologia · May 2012
Review[Treatment with antisense oligonucleotides in Duchenne's disease].
In this paper I review the results of the treatments directed to modify the mRNA of dystrophin with the goal of converting the severe Duchenne type to the milder Becker muscular dystrophy. Antisense oligomers potential to modify Duchenne muscular dystrophy (DMD) gene expression and therapeutic strategies to induce ribosomal read-through of nonsense mutations (PTC124) are described. ⋯ Significant expression of new dystrophin is observed in biopsies of peripheral muscle, although the functional improvement is not so encouraging. New modification of chemistries are expected to improve the liberation, broad distribution in muscles, as well as their efficacy and safety enough to allow a positive chronic treatment of DMD.
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Revista de neurologia · May 2012
Case Reports[Joubert syndrome: report of four adult siblings affected].
Joubert syndrome is a rare, autosomal recessive genetic transmission illness, with ten associated genes discovered at the time. They code for primary ciliary proteins; that is why Joubert syndrome is considered a 'ciliopathie'. The primary cilia are involved in cell proliferation and neuronal migration in cerebellum and axonal brain, being essential for their proper development. The first description was made in 1969 by Marie Joubert and colleagues. They reported four cases with partial or total agenesis of the cerebellar vermis, apnea-hyperpnea neonatal episodic, abnormal eye movements, ataxia and mental retardation. One of them also showed occipital meningoencephalocele. ⋯ This study shows the need for early disease diagnosis to ensure proper monitoring, therapeutic approach and family genetic counseling, as well as the role of the cerebellum in cognitive functions and intelligence development.
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Revista de neurologia · May 2012
Multicenter Study[Incidence and characteristics of tumours of the central nervous system among the paediatric population of Asturias. New data about an incidence on the rise].
Tumours of the central nervous system (CNS) are one of the most common causes of child mortality, second only to accidents. In the last few decades we have witnessed an increase in the incidence of these tumours, which now stands at 2.5-3.2 cases/100,000 children/year in the population under 15 years of age. ⋯ The incidence of tumours affecting the CNS found in children in Asturias is the highest of those recorded for this age bracket, the clinical features of these patients being similar to those in other studies. We seem to be before new data that confirms the claims of a growing incidence of these tumours.