Revista de neurologia
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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.
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Revista de neurologia · Apr 2012
Review Case Reports[Fast and spectacular clinical response to plasmapheresis in a paediatric case of anti-NMDA encephalitis].
Autoimmune encephalitis against N-methyl-D-aspartate (NMDA) receptors is being diagnosed more and more frequently in the paediatric age. It should be suspected in children with psychiatric symptoms, encephalopathy, abnormal movements or epileptic seizures. Paraneoplastic cases are less frequent than in adults. ⋯ Anti-NMDA encephalitis is a treatable disorder and, sometimes, the first evidence of an underlying neoplasia, which makes its early recognition and treatment essential. Treatment of the non-paraneoplastic forms are based on immunotherapy: glucocorticoids, intravenous immunoglobulins, plasmapheresis and immunosuppressants. Plasmapheresis can bring about a fast, spectacular improvement.
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Revista de neurologia · Mar 2012
[Description of a series of cases of hypnic headache. Differentiation between sexes].
Hypnic headache is an infrequent type of primary headache characterised by appearing almost exclusively during sleep and by waking the patient up. The pain is dull (generally bilateral), is not associated to autonomic signs and usually appears from the age of 50 onwards. ⋯ The pain in hypnic headaches is more intense in males, although this needs to be corroborated in longer series. Further advances need to be made in the pathophysiology of this kind of headache so as to be able to find more efficient preventive pharmacological agents.
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Revista de neurologia · Mar 2012
Letter Review Case Reports[Spontaneous epidural haematoma, an infrequent cause of cervicodorsal pain].