Revista de neurologia
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Revista de neurologia · Dec 2014
Clinical Trial[Response to everolimus in patients with giant cell astrocytoma associated to tuberous sclerosis complex].
Subependymal giant cell astrocytomas (SEGA) appear in 5-20% of patients with tuberous sclerosis complex (TSC) and are the most common brain tumours in TSC. They are benign tumours, of a glioneural stock, that develop mainly in the first two decades of life, generally close to the foramen of Monro, and can trigger hydrocephalus and intracranial hypertension. It is one of the leading causes of death in TSC. Recently mTOR inhibitors have proved to be a therapeutic alternative to surgical excision. AIM. To describe our experience of using everolimus to treat patients with SEGA and TSC. ⋯ Treatment with everolimus reduces the size of SEGA associated with TSC with an adequate safety profile, and constitutes an alternative to surgery in certain cases.
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Revista de neurologia · Dec 2014
Case Reports[Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
Pompe disease/glycogen storage disease type II is a congenital metabolic disorder. It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations. ⋯ GAA is the only authorized option for Pompe disease treatment; the effects observed are similar to the ones described in the literature, with excellent outcome in the hypertrophic cardiomyopathy but less effective in the skeletal muscle.
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Revista de neurologia · Oct 2014
[Hemicrania continua and paroxysmal hemicrania: clinical and therapeutic characteristics in a series of 23 patients].
Hemicranias are an uncommon type of headache characterised by strictly unilateral pain, either as a continuous, although fluctuating, headache in hemicrania continua (HC) or in the form of recurring attacks in paroxysmal hemicrania (PH). In both types of headache, an absolute response to indomethacin is reported. AIMS. To analyse the fulfilment of current diagnostic criteria for HC and PH and the recent introduction of HC within the group of trigeminal-autonomic cephalgias. ⋯ Hemicranias are not frequently diagnosed in day-to-day clinical practice. Their diagnosis requires the fulfilment of certain criteria that are sometimes not fully satisfied. We believe that the criteria need revising and we also support the recent inclusion of HC within the group of trigeminal-autonomic cephalgias.
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Revista de neurologia · Oct 2014
Observational Study[Peripheral vertigo versus central vertigo. Application of the HINTS protocol].
One of the most important dilemmas concerning vertigo in emergency departments is its differential diagnosis. There are highly sensitive warning signs in the examination that can put us on the path towards finding ourselves before a case of central vertigo. ⋯ Faced with a patient who visits the emergency department with an acute vestibular syndrome, a suitably directed examination is essential to be able to establish the differential diagnosis between peripheral and central pathology, since some cerebrovascular accidents can present with the appearance of acute vertigo. Applying a protocol like HINTS makes it possible to suspect the central pathology with a high degree of sensitivity and specificity.
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Revista de neurologia · Oct 2014
Multicenter Study Clinical Trial Observational Study[Effectiveness of lacosamide in the treatment of refractory neuropathic pain: an open observational trial].
Although different treatments are available for neuropathic pain, these patients are often refractory, which makes it necessary to test treatments that, as they have proven useful in other pathologies, could be effective in neuropathic pain. ⋯ Treatment with lacosamide in neuropathic pain due to different causes could be considered an effective and well-tolerated alternative for patients who fail to respond to standard treatments.