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Introducción: los criterios diagnósticos actuales de la enfermedad de Creutzfeldt-Jakob (ECJ) probable incluyen la combinación de datos clínicos, electroencefalográficos y analíticos. En los últimos años se ha demostrado que la RM craneal con el uso de secuencias FLAIR y difusión (DWI) puede ser una herramienta útil en el diagnóstico de esta enfermedad. Describimos nuestra experiencia en la utilización de la DWI convencional (b: 1000s/mm2) y DWI con valor b alto (3000s/mm2) en el diagnóstico de la ECJ probable o definitiva. Pacientes y métodos: realizamos un análisis retrospectivo de los pacientes atendidos en nuestro hospital diagnosticados de ECJ probable o definitiva, desde el año 2002 al 2008. A todos ellos se les realizó una RM craneal con un protocolo que incluyó secuencias potenciadas en T1, T2, FLAIR y dos secuencias DWI, una con valor b convencional (1000s/mm2) y otra con valor b alto (3000s/mm2). Resultados: se atendieron a 7 pacientes con diagnóstico de ECJ probable o definitiva. En tres de ellos (43%) la secuencia FLAIR mostró cambios de señal compatibles con ECJ. En todos los pacientes en la secuencia DWI con valor b alto se observaron alteraciones características de la enfermedad, incluyendo dos casos (28%) en los que todas las secuencias realizadas, incluida la DWI convencional, fueron normales. Adicionalmente en los 7 casos (100%) las alteraciones radiológicas fueron más fáciles de identificar y más extensas con valores altos b de DWI (AU). Conclusión: la utilización de un valor b alto (3000s/mm2) en la secuencia DWI puede aumentar la sensibilidad de la RM craneal en el diagnóstico de la ECJ, permitiendo la detección de casos en los que la DWI convencional es normal

Background: current diagnostic criteria of probable Creutzfeldt-Jakob disease (CJD) include a combination of clinical, EEG and analytic data. Recent data indicate that brain MRI including fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) sequences can be a valid and reliable tool for the diagnosis of CJD. We describe our experience with high b-value (3000s/mm2) diffusion-weighted imaging (DWI) in patients with probable or definite CJD and compare it with standard b-value (1000s/mm2) DWI. Methods: we performed a retrospective analysis of patients admitted to our Hospital Service between 2002 and 2008 with a final diagnosis of probable or definite CJD. Patients were examined using either a 1.5 Tesla or a 3 Tesla MRI. The MRI protocol included T1-weigthed spin-echo sequences, T2-weighted fast spin-echo, FLAIR and DWI sequences with high b-value and standard b-value. Results: during the study period there were 7 patients with probable or definite CJD. Only 3 patients (43%) showed changes on FLAIR sequence consistent with CJD. All the cases were detected with high b-value DWI, including 2 cases (28%) that would have been missed using standard b-value (1000s/mm2) DWI. In all the patients the changes were more conspicuous and extensive at high b-value DWI (b=3000s/mm2). Conclusion;: our data indicate that high b-value DWI may improve the sensitivity of brain MRI for the diagnosis of CJD, allowing the detection of some cases that would have been overlooked by conventional sequences (AU)

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BACKGROUND: current diagnostic criteria of probable Creutzfeldt-Jakob disease (CJD) include a combination of clinical, EEG and analytic data. Recent data indicate that brain MRI including fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) sequences can be a valid and reliable tool for the diagnosis of CJD. We describe our experience with high b-value (3000s/mm(2)) diffusion-weighted imaging (DWI) in patients with probable or definite CJD and compare it with standard b-value (1000s/mm(2)) DWI. METHODS: we performed a retrospective analysis of patients admitted to our Hospital Service between 2002 and 2008 with a final diagnosis of probable or definite CJD. Patients were examined using either a 1.5 Tesla or a 3 Tesla MRI. The MRI protocol included T1-weigthed spin-echo sequences, T2-weighted fast spin-echo, FLAIR and DWI sequences with high b-value and standard b-value. RESULTS: during the study period there were 7 patients with probable or definite CJD. Only 3 patients (43%) showed changes on FLAIR sequence consistent with CJD. All the cases were detected with high b-value DWI, including 2 cases (28%) that would have been missed using standard b-value (1000s/mm(2)) DWI. In all the patients the changes were more conspicuous and extensive at high b-value DWI (b=3000s/mm(2)). CONCLUSION: our data indicate that high b-value DWI may improve the sensitivity of brain MRI for the diagnosis of CJD, allowing the detection of some cases that would have been overlooked by conventional sequences.

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We report a SUNCT patient who showed both a precipitation and worsening of symptomatic periods after treatment with L-type calcium channel blockers. This pharmacological response may provide us with important clues for understanding the pathophysiology of SUNCT, and hopefully to find a remedy for the victims of this syndrome. This observation could also support a verapamil trial in SUNCT patients as a precipitating of attacks.

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INTRODUCTION: Neuropsychology is a discipline included in the neurosciences which, over the past twenty years, has shown its value in the assessment and rehabilitation of cognitive functions in different disorders. In particular, in epilepsy it has permitted the description of the different factors which affect cognitive deterioration; permitted the establishment of profiles of cognitive deterioration and also the evaluation of the adverse effects of some anti-epileptic drugs on cognition. DEVELOPMENT: In this paper we confirm the value of neuropsychology in an Epilepsy Unit and describe different procedures for evaluation, as well as the cognitive consequences of the surgery of epilepsy.

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Introducción. La neuropsicología es una disciplina dentro del campo de las neurociencias que en las últimas dos décadas ha demostrado su valor en la valoración y rehabilitación de las funciones cognitivas en diferentes patologías. En concreto, en la epilepsia ha permitido describir los diferentes factores que influyen en el deterioro cognitivo, permite establecer perfiles de deterioro cognitivo e incluso valorar los efectos adversos que sobre la cognición presentan algunos fármacos antiepilépticos. Desarrollo. En este trabajo enunciamos el valor de la neuropsicología en una unidad de epilepsia y describimos diferentes procedimientos de evaluación, así como las consecuencias cognitivas de la cirugía de la epilepsia (AU)

Introduction . The neuropsychology is a discipline within the field of neuroscience in the past two decades has demonstrated its value in the assessment and rehabilitation of cognitive functions in different pathologies. Specifically , in epilepsy has allowed to describe the different factors that influence cognitive impairment , can establish profiles of cognitive impairment and even assess the adverse effects on cognition have some antiepileptic drugs. Development. In this paper we state the value of neuropsychology in epilepsy unit and describe various methods of evaluation and cognitive consequences of epilepsy surgery (AU)

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We reviewed retrospectively 12 patients with Wilson's disease diagnosed during a 16-year period (1974-1989). The prevalence rate was 0.6 per 100,000 individuals. Clinical onset was hepatic (50%) or neurologic (50%), but at diagnosis (6.4 years later) 67% of patients showed several clinical manifestations: hepatic, neurologic, renal and haematologic. Among the essential diagnostic indices we find false negative results for Kayser-Fleischer ring (25%), serum ceruloplasmin (8%) and total serum copper (34%). Ten patients were treated with penicillamine. This drug was effective and well tolerated, although one patient (10%) developed membranous nephritis and required to change successively to BAL and trien. In a 61 months follow-up 5 patients (42%) died from severe liver failure. Patients with poor prognosis had a diagnostic delay and a liver failure degree significantly greater than patients with good prognosis. Our results suggest the following conclusions: a) in Spain the prevalence rate of Wilson's disease is near the lower reported rate; b) the early diagnosis of Wilson's disease is rare; c) diagnosis should be made only when several essential indices are positive; d) early hepatic transplantation showed carried out in patients with acute or chronic severe liver failure.

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Five patients with variable clinical symptoms were diagnosed as having--subcortical arteriosclerotic encephalopathy (Binswanger disease) based on the presence of lacunar infarcts in basal ganglia, various abnormalities of subcortical white matter and severe thickening and hyalinization of penetrating arteries and arterioles. One case had a classical clinical picture while in the others the course of the disease was short and was associated with severe systemic abnormalities. The variability of the clinical features, the identify of "classical" clinical symptoms with other forms of cerebral arteriosclerosis, the similarity between "atypical" cases and other entities, and the high frequency of associated conditions makes it difficult to characterize the clinical pathological entity called subcortical arteriosclerotic encephalopathy.

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Five patients died of a severe neuromyopathy months after the ingestion of adulterated rapeseed oil. These patients were selected for this study due to the presence of striking chromatolytic lesions in symmetric and scattered nuclei of the brain stem, including the locus coeruleus, midline raphe, lateral reticular nuclei of the medulla and cuneate nuclei. Two of the five cases, in addition to these topographic levels of involvement, had remarkable chromatolysis, vacuolar degeneration and heavy silver impregnation of the swollen perykarya and proximal dendrites in the nuclei of the basis pontis. In this paper we analyze the features of the chromatolytic lesion and suggest that the neuronal pathology observed in these cases is an example of irreversible chromatolysis involving vacuolization and filamentous proliferation as final events of the chromatolytic process. The cause of the cell degeneration in the toxic oil syndrome (TOS) is yet undetermined. Chromatolysis in this disease may be the result of a neurotoxic action of the toxic factor in the adulterated oil.

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Patients with Spanish Toxic Oil Syndrome (TOS) complaining of neuromuscular symptoms had increased levels of homovanillic acid and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid. Severity of pain and muscle cramps correlated with the magnitude of increment in levels of monoamine metabolites. Mice treated with oleyl anilide, a putative toxic compound found in some stocks of the toxic rapeseed oil, did not present clinical or anatomical findings compatible with TOS. However, biochemical studies in these mice revealed a depletion of serotonin and an elevation of 5-HIAA levels. Our findings suggest that the unidentified toxic agent of the TOS and oleyl anilide induce pharmacological changes in monoamine neurons of the brain.

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A patient with Brueghel's syndrome is described, who died following a seven year history of oromandibular dystonia with blepharospasm. Postmortem examination of the central nervous system revealed no abnormalities.

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We analyzed clinical, histological and biochemical findings in 10 patients with glycogen storage disease in skeletal muscle. Four patients were deficient in acid-alpha-glucosidase (Glycogenosis type II), three of them with late infantile onset and one patient adult form. Five patients, two of them siblings, were deficient in myophosphorylase (glycogenosis type V, McArdle's disease). One patient was a newborn with phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). Of the study of our cases we would like to outline the following features: in the glycogenosis type II the deposit is fundamentally intralysosomal in the late infantile form, storage of mucopolysaccharides and deposit in interstitial fibroblasts were found, while in the adult form glycogen storage is minimal. In the glycogenosis type V the storage of glycogen is free and of a small amount. In two patients we have observed enzymatic activity in regenerating fibres. In glycogenosis type VII the storage is free, of considerable quantity and the interstitial cells are also affected; no storage is observed in the satellite cells.

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Clinical, electrophysiological and histological studies of skeletal muscle were performed in 12 patients with primary hypertrophic cardiomyopathy trying to add more information about the skeletal muscle affectation in this disease. Eight cases showed mild increase in serum enzymes. All of the patients showed slight abnormalities in the electrophysiologic studies: four had abnormal conduction velocities in peripheral nerve, another four a myopathic pattern in the EMG and four a mixed pattern. Histologically only 2 patients showed signs of a denervation atrophy. The most common alterations found were non-specific (isolated fibre atrophy, disorganization of the myofibrillar network and type II atrophy).

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