[Behavioural variant of frontotemporal dementia as the presenting symptom of corticobasal degeneration]. / Variante conductual de la demencia frontotemporal como forma de presentacion de la degeneracion corticobasal.

INTRODUCTION: The behavioural variant of frontotemporal dementia is characterised by progressive social, cognitive and personality deterioration associated with several molecular pathologies of frontotemporal lobar dementia (FTLD): FTLD-tau, FTLD-TDP and FTLD-FUS. Its diagnosis requires pathological studies. CASE REPORT: A 61-year-old male, with a three-year progressive history of behavioural disorder, apathy, poor language skills, perseveration, lack of empathy, bulimia and executive dysfunction. Neuroimaging revealed right-dominant frontal cortical atrophy, and a single-photon emission tomography brain scan showed bilateral frontal hypoperfusion with thalamic and caudate involvement. Clinically, he was diagnosed with probable frontotemporal dementia, behavioural variant. On his death, his brain was donated to the Neurological Tissue Bank and the neuropathological diagnosis was corticobasal degeneration. CONCLUSIONS: Corticobasal degeneration is one of the FTLD-tau tauopathies. The 2013 diagnostic criteria for corticobasal degeneration include executive dysfunction and behavioural and personality disorders similar to those of this patient as a clinical phenotype. The anatomoclinical case presented illustrates the absence of any correlation between the clinical phenotype and the underlying neuropathological diagnosis in frontotemporal dementia, and the need to conduct a histopathological study in order to reach a definitive diagnosis.

TITLE: Variante conductual de la demencia frontotemporal como forma de presentacion de la degeneracion corticobasal.Introduccion. La variante conductual de la demencia frontotemporal se caracteriza por el deterioro progresivo de la personalidad, social y cognitivo que se asocia con diversas patologias moleculares de la degeneracion lobar frontotemporal (DLFT): DLFT-tau, DLFT-TDP y DLFT-FUS. El estudio anatomopatologico es necesario para su diagnostico. Caso clinico. Varon de 61 años, con un cuadro progresivo de tres años de evolucion de trastorno conductual, apatia, lenguaje pobre, perseveracion, falta de empatia, bulimia y disfuncion ejecutiva. En la neuroimagen se objetivo una atrofia cortical frontal de predominio derecho, y en la tomografia simple por emision de foton unico cerebral, una hipoperfusion frontoparietotemporal bilateral con afectacion de talamos y caudados. Clinicamente, se le diagnostico probable demencia frontotemporal, variante conductual. Tras su fallecimiento, se dono el cerebro al Banco de Tejidos Neurologicos y el diagnostico neuropatologico fue el de degeneracion corticobasal. Conclusiones. La degeneracion corticobasal es una de las taupatias de la DLFT-tau. Los criterios diagnosticos de degeneracion corticobasal de 2013 contemplan como fenotipo clinico la disfuncion ejecutiva, las alteraciones conductuales y de personalidad similar al de este paciente. El caso anatomoclinico presentado ilustra la falta de correlacion entre el fenotipo clinico y el diagnostico neuropatologico subyacente en la demencia frontotemporal, y la necesidad de realizar el estudio histopatologico para llegar al diagnostico definitivo.

[Fingolimod: effectiveness and safety in routine clinical practice. An observational, retrospective, multi-centre study in Galicia]. / Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.

INTRODUCTION: The effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis (RRMS) have been proven in clinical trials. Yet, due to their limitations, it is important to know how it behaves under everyday clinical practice conditions. Hence, the aim of this study is to evaluate the effectiveness and safety of fingolimod after 12 months' usage in clinical practice in Galicia. PATIENTS AND METHODS: We conducted a retrospective, multi-centre study (n = 8) of patients with RRMS who were treated with one or more doses of fingolimod, 0.5 mg/day. Effectiveness was assessed -annualised relapse rate (ARR), changes in the score on the Expanded Disability Status Scale (EDSS), percentage of patients free from relapses, free from progression of disability and free from activity in resonance- for the total number of patients and according to previous treatment. Safety was assessed based on the percentage of patients who withdrew and presented adverse side effects. RESULTS: After 12 months' use, fingolimod reduced the ARR by 87% (1.7 to 0.23; p < 0.0001) and, consequently, 81% of patients were free from relapses. The score was reduced by 9%. In all, 91% of patients were free from progression of disability and 72% were free from resonance activity. No signs of disease activity were found in 43% of the patients. Most of the benefits of fingolimod differed depending on previous treatment. About a third of the patients reported adverse side effects, but only 2% of them withdrew for this reason. CONCLUSIONS: In clinical practice, most of the results on the effectiveness of the clinical trials conducted with fingolimod were observed during the first 12 months of treatment. A better safety profile was observed than that reported in the clinical trials.

TITLE: Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.Introduccion. La efectividad y seguridad del fingolimod en pacientes con esclerosis multiple remitente recurrente (EMRR) se demostro en ensayos clinicos. Sin embargo, por las limitaciones de estos, es importante saber como se comporta en condiciones de practica clinica habitual. Asi, el objetivo de este estudio es evaluar la efectividad y seguridad del fingolimod despues de 12 meses de uso en la practica clinica en Galicia. Pacientes y metodos. Estudio retrospectivo y multicentrico (n = 8) de pacientes con EMRR y tratados con una o mas dosis de fingolimod, 0,5 mg/dia. Se evaluo la efectividad ­tasa anualizada de brotes (TAB), cambio en la puntuacion de la escala expandida del estado de discapacidad (EDSS), porcentaje de pacientes libres de brotes, libres de progresion de discapacidad y libres de actividad en resonancia­ para el total de pacientes y segun tratamiento previo. Se evaluo la seguridad a partir del porcentaje de pacientes que discontinuaron y que presentaron efectos adversos. Resultados. Despues de 12 meses de uso, el fingolimod redujo un 87% la TAB (de 1,7 a 0,23; p < 0,0001) y, en consecuencia, un 81% de pacientes estuvo libre de brotes. La puntuacion de la EDSS disminuyo un 9%. Un 91% de pacientes estuvo libre de progresion de discapacidad y un 72%, libre de actividad en resonancia. En el 43% de los pacientes no se evidenciaron signos de la actividad de la enfermedad. La mayoria de los beneficios del fingolimod difirieron segun el tratamiento previo. Alrededor de un tercio de los pacientes comunicaron efectos adversos, pero solo el 2% discontinuo debido a ellos. Conclusiones. La mayoria de los resultados de efectividad de los ensayos clinicos del fingolimod se observa durante los 12 primeros meses de tratamiento en la practica clinica. Se observo un mejor perfil de seguridad al comunicado en los ensayos clinicos.

Hemorragia intracerebral lobular: análisis de una serie y características en pacientes antiagregados y anticoagulados / Lobar intracerebral haemorrhage: analysis of a series and characteristics of patients receiving anti-platelet or anticoagulation treatment

Introducción: La hemorragia intracerebral lobular (HIL) es una causa poco frecuente de ictus y representan cerca del 20% de las hemorragias intracerebrales primarias. La causa más frecuente son la angiopatía amiloidea cerebral (AAC), la hipertensión arterial (HTA) y otras como el tratamiento antiagregante o anticoagulante. Analizar una serie de pacientes con HIL y compararla con subgrupos de pacientes con HIL antiagregados o anticoagulados previamente. Determinar el volumen de la hemorragia y su valor predictivo de mortalidad.Pacientes y métodos: Se incluyó de forma consecutiva y retrospectiva a 162 pacientes diagnosticados de HIL y atendidos en el servicio de neurología del Hospital Meixoeiro de Vigo entre los años 1991 y 2009. Se recogieron características demográficas, factores de riesgo, etiologías y clínica, y se realizó un análisis comparativo entre la serie general y los subgrupos de paciente antiagregados y anticoagulados.Resultados: En la serie general la causa más frecuente fue la AAC posible o probable seguida de la HTA. En los subgrupos de pacientes antiagregados o anticoagulados no había diferencias en las variables estudiadas excepto en la frecuencia de cardiopatía. Sí existían diferencias en cuanto a la edad, la cardiopatía y la volumen de la hemorragia entre la serie general (sin los pacientes antiagregados o anticoagulados) cuando se compararon con los subgrupos de antiagregados y anticoagulados.Conclusiones: Aportamos algunas novedades respecto al comportamiento clínico de la HIL y sus diferencias en los pacientes antiagregados o anticoagulados. La mortalidad es superior en las HIL anticoaguladas. Son variables predictivas de defunción el sexo femenino y el volumen de la hemorragia (AU)

Introduction: Lobar intracerebral haemorrhage (LIH), is a rare cause of stroke which accounts for about 20% of primary intracerebral haemorrhages. The most common causes are cerebral amyloid angiopathy (CAA), high blood pressure and others, such as using anti-platelet or anticoagulation agents. We analysed a series of patients with LIH and compared it with subgroups of patients with LIH who were previously receiving anti-platelet or anticoagulation agents. We determined the volume of the bleeding and its predictive value for mortality. Patients and methods: We consecutively and retrospectively included 162 patients diagnosed with LIH and cared for in the Neurology Department of Hospital Meixoeiro in Vigo between 1991 and 2009. We collected demographic characteristics, risk factors, aetiologies and symptoms, and conducted a comparative analysis between the general series and the subgroups of patients receiving anticoagulation and anti-platelet agents. Results: In the general series, the most common cause was possible or probable CAA followed by hypertension. In the subgroup of patients receiving anti-platelet or anticoagulation agents there were no differences in the variables studied, except for the frequency of heart disease. Nonetheless, there were differences with respect to age, heart disease and bleeding volume between the general series (patients not treated with anti-platelet or anticoagulation agents) when compared with the subgroups of patients receiving anti-platelet and anticoagulation agents. Conclusions: We provide new information regarding the clinical behaviour of LIH and its differences in patients receiving anti-platelet or anticoagulation agents. Mortality is higher in cases of LIH on anticoagulants. LIH. Female sex and the volume of bleeding are predictors of mortality (AU)

Lobar intracerebral haemorrhage: analysis of a series and characteristics of patients receiving antiplatelet or anticoagulation treatment.

INTRODUCTION: Lobar intracerebral haemorrhage (LIH), is a rare cause of stroke which accounts for about 20% of primary intracerebral haemorrhages. The most common causes are cerebral amyloid angiopathy (CAA), high blood pressure and others, such as using anti-platelet or anticoagulation agents. We analysed a series of patients with LIH and compared it with subgroups of patients with LIH who were previously receiving anti-platelet or anticoagulation agents. We determined the volume of the bleeding and its predictive value for mortality. PATIENTS AND METHODS: We consecutively and retrospectively included 162 patients diagnosed with LIH and cared for in the Neurology Department of Hospital Meixoeiro in Vigo between 1991 and 2009. We collected demographic characteristics, risk factors, aetiologies and symptoms, and conducted a comparative analysis between the general series and the subgroups of patients receiving anticoagulation and anti-platelet agents. RESULTS: In the general series, the most common cause was possible or probable CAA followed by hypertension. In the subgroup of patients receiving anti-platelet or anticoagulation agents there were no differences in the variables studied, except for the frequency of heart disease. Nonetheless, there were differences with respect to age, heart disease and bleeding volume between the general series (patients not treated with anti-platelet or anticoagulation agents) when compared with the subgroups of patients receiving anti-platelet and anticoagulation agents. CONCLUSIONS: We provide new information regarding the clinical behaviour of LIH and its differences in patients receiving anti-platelet or anticoagulation agents. Mortality is higher in cases of LIH on anticoagulants. LIH. Female sex and the volume of bleeding are predictors of mortality.

[Lobar intracerebral haemorrhage and cerebral amyloid angiopathy: analysis of a series of 106 patients]. / Hemorragia intracerebral lobular y angiopatía amiloidea cerebral: análisis de una serie de 106 pacientes.

INTRODUCTION: Lobar intracerebral haemorrhage (LH) is an uncommon cause of stroke. Many LH are caused by cerebral amyloid angiopathy (CAA). The aim of the present study is to analyse the clinical signs, risk factors, lesion volume and development, of a consecutive series of patients suffering from LH and to compare the various characteristics between haemorrhages which comply with the Boston criteria for CAA and those which do not comply with these inclusion criteria. METHODS: A consecutive series of 106 patients suffering from LH and admitted to the neurological service in the Meixoeiro Hospital of Vigo between 1991 and 2005 is described. The Boston criteria were applied to all patients suffering from LH associated with possible, probable and confirmed CAA. The clinical signs, risk factors, haemorrhage sizes, evolution and complications of the patients complying with the CAA inclusion criteria were compared to those who did not comply with the inclusion criteria. RESULTS: The 106 patients from the series, represent 14.4% of intracerebral haemorrhages and 3.7% of all strokes. Fifty-four percent (54 %) of the patients were female and arterial hypertension was an important risk factor. Twenty point eight percent (20.8%) of the patients were admitted in coma and 60% with hemiparesis. Of these LH patients 28.3% died. The haemorrhage volume and the female gender were the only predictive factors for death. No significant variables were observed to differentiate the groups in the comparative analysis of the subgroups of patients with CAA inclusion criteria and those without. CONCLUSIONS: The series studied showed similar risk factors and clinical characteristics to other published series. No predictive clinical variables were found to differentiate between LH which complied with CAA inclusion criteria and those that did not comply.

[Rapid-onset dystonia-parkinsonism: sporadic form]. / Distonía-parkinsonismo de inicio rápido: forma esporádica.

INTRODUCTION: The rapid-onset dystonia-parkinsonism is a movement disorder which associates dystonic symptoms, especially those affecting orofacial muscles, and parkinsonian symptoms. All these symptoms start suddenly and then they stabilize along the process. This disorder usually occurs to young adults and is an autosomal dominant trait with a reduced penetrance, although some sporadic cases have been reported. The genetic alteration is found on the chromosome 19q13, where the mutated gene ATP1A3 has been identified. This gene is linked to the regulation of the sodium-potassium pump. CASE REPORT: A 16-year-old woman developed a sudden onset of dystonic symptoms which affected her higher and lower limbs, bulbar muscles, together with severe dysarthria and dysphagia. The onset occurred over hours, but her symptoms have been stabilized for years. No movement or other neurological disorders are reported in her family history. CONCLUSIONS: This is probably a sporadic case of rapid-onset dystonia-parkinsonism, and it is the second one reported in Spain. Diagnostic criteria, differential diagnosis, etiopahogenesis and genetic alterations are also discussed.

Distonía-parkinsonismo de inicio rápido: forma esporádica / Rapid-onset dystonia-parkinsonism: sporadic form

Introducción. La distonía-parkinsonismo de inicio rápido es un trastorno del movimiento que asocia distonía, conespecial afectación de la musculatura orofacial, y síntomas parkinsonianos. Esta sintomatología se instaura de forma brusca y posteriormente permanece estable a lo largo de la enfermedad. Afecta sobre todo a personas jóvenes y tiene carácter hereditario autosómico dominante con escasa penetrancia, aunque se han descrito casos esporádicos. La alteración genética selocaliza en el cromosoma 19q13, donde se ha encontrado una mutación del gen ATP1A3 relacionado con la regulación de la bomba de sodio-potasio. Caso clínico. Mujer de 16 años con un cuadro brusco de distonía que afecta a los miembros superiores e inferiores y a la musculatura bulbar, con importante disartria y disfagia. El cuadro clínico se instauró en unas horas yha permanecido estable a lo largo de los años. No existen antecedentes familiares de trastornos del movimiento ni de otras enfermedades neurológicas. Conclusiones. La distonía-parkinsonismo de inicio rápido constituye una forma rara de parkinsonismo que puede aparecer de forma esporádica o familiar. Este caso representa probablemente una forma esporádica y es elsegundo caso de esta rara entidad comunicado en España. El diagnóstico diferencial es complejo y debe realizarse principalmente con el parkinsonismo juvenil, la distonía que responde a la levodopa y la distonía-parkinsonismo unido al cromosoma X. Se discuten los criterios diagnósticos, el diagnóstico diferencial, la etiopatogenia y las alteraciones genéticas

Introduction. The rapid-onset dystonia-parkinsonism is a movement disorder which associates dystonic symptoms,especially those affecting orofacial muscles, and parkinsonian symptoms. All these symptoms start suddenly and then they stabilize along the process. This disorder usually occurs to young adults and is an autosomal dominant trait with a reduced penetrance, although some sporadic cases have been reported. The genetic alteration is found on the chromosome 19q13,where the mutated geneATP1A3 has been identified. This gene is linked to the regulation of the sodium-potassium pump. Case report. A 16-year-old woman developed a sudden onset of dystonic symptoms which affected her higher and lower limbs, bulbar muscles, together with severe dysarthria and dysphagia. The onset occurred over hours, but her symptoms have been stabilized for years. No movement or other neurological disorders are reported in her family history. Conclusions. This isprobably a sporadic case of rapid-onset dystonia-parkinsonism, and it is the second one reported in Spain. Diagnostic criteria, differential diagnosis, etiopahogenesis and genetic alterations are also discussed

[Streptococcus bovis meningitis. An infrequent cause of bacterial meningitis in the adult patient]. / Meningitis por Streptococcus bovis: una causa poco frecuente de meningitis bacteriana en el paciente adulto.

INTRODUCTION: Bacterial meningitis in adult patients, produced by streptococci other than Streptococcus pneumoniae, is not common. CASE REPORT: We report the case of a 74 year old male patient with meningitis and endocarditis due to Streptococcus bovis (group D, not enterococcus), sensitive to penicillin (CMI< 0.1 mg/L), with no characteristic clinical or analytical discoveries. A gastrointestinal exploration revealed only diverticles in the colon and two lesions compatible with splenic infarction, observed by using computerised axial tomography of the abdomen. The patient responded favourably to a four week course of antibiotics; he remained asymptomatic, afebrile and culture negative after the therapy was stopped. CONCLUSIONS: In many previously reported cases, there is an association with gastrointestinal illness, endocarditis or oral lesions. Gram staining of the cerebrospinal fluid is usually negative and the neurological signs are often subtle. In the case of bacteraemia, endocarditis or S. bovis meningitis, the presence of an underlying pathology of the colon due to the frequent association between these processes must be ruled out. Treatment with penicillin G is usually sufficient.

Meningitis por Streptococcus bovis: una causa poco frecuente de meningitis bacteriana en el paciente adulto / Streptococcus bovis meningitis. An infrequent cause of bacterial meningitis in the adult patient

Introducción. La meningitis producida por estreptococos diferentes del S. pneumoniae es infrecuente en los pacientes adultos. Caso clínico. Paciente varón, de 74 años, que presentó meningitis y endocarditis debidas a Streptococcus bovis (grupo D, no enterococo), sensible a la penicilina (CMI< 0,1 mg/L), sin hallazgos clínicos ni analíticos característicos. En el estudio gastrointestinal sólo se observaron divertículos en el colon; mediante tomografía computarizada abdominal se observaron dos lesiones esplénicas compatibles con infarto. El paciente evolucionó favorablemente con el tratamiento antibiótico que recibió durante cuatro semanas, tras el cual permaneció asintomático, afebril y con hemocultivos negativos. Conclusiones. En muchos de los casos similares que se han comunicado coexiste una enfermedad gastrointestinal, endocarditis o lesiones orales. La tinción de Gram del líquido cefalorraquídeo suele ser negativa y los signos neurológicos son a menudo sutiles. En caso de bacteriemia, endocarditis o meningitis por S. bovis, es necesario descartar la presencia de patología colónica debido a la frecuente asociación entre estos procesos. El tratamiento con penicilina G es usualmente adecuado (AU)

[The association of Marchiafava-Bignami disease, cerebral pellagra and cerebellar degeneration in an alcoholic patient]. / Asociación de enfermedad de Marchiafava-Bignami, pelagra cerebral y degeneración cerebelosa en un paciente alcohólico.

INTRODUCTION: Marchiafava-Bignami disease, cerebral pellagra and alcoholic cerebellar degeneration are a group of diseases included in the alcoholic encephalopathies, although they may also be caused by metabolic or nutritional disorders. The isolated appearance of these diseases usually permits diagnosis during the life of the patient, based on the neuro-radiological findings. However, their combination leads to complex form, with variable neurological expression, which means that precise diagnosis may often be post mortem. CLINICAL CASE: We present a malnourished alcoholic patient with neurological features compatible with alcoholic encephalopathy. The post mortem findings showed lesions typical of alcoholic cerebellar degeneration, cerebral pellagra and Marchiafava-Bignami disease.

[Normotensive hydrocephalus as a manifestation of meningovascular syphilis]. / Hidrocefalia normotensiva como manifestación de sífilis meningovascular.

Progressive general paralysis, tabes dorsalis and meningovascular syphilis are different manifestations of tertiary syphilis. The clinical picture of meningovascular syphilis is of a subacute or chronic meningeal syndrome. It may be associated with focal neurological signs of cerebral arteritis. Inflammation of the leptomeninges may impede circulation of the cerebrovascular fluid at different levels, giving rise to noncommunicating, or exceptionally to communicating hydrocephalus. Diagnosis of this depends on the clinical signs and neuro-imaging changes. We present the case of a man with meningovascular syphilis who developed clinical signs of normotensive hydrocephalus.

[Neurological presentation of systemic lupus erythematosus]. / Presentación neurológica del lupus eritematoso sistémico.

We describe the case of a 61 years-old-woman with lupus erythematosus who presented with neurological symptoms, namely dementia, focality and crisis. The neurological presentation of lupus is evaluated clinically, being similar to the central manifestations of patients with systemic onset. The marked cognitive affectation with relation to other cases of lupus with a neurological onset is emphasized. MR has been shown to be a sensitive means of detection of corticosubcortical lesions of neurolupus, not specific to this condition, as well as to their response to immunosuppressors. The aetiopathogenesis of some of the manifestations of cerebral lupus and the clinical response to corticosteroids and cyclophosphamide is reviewed.

[Cephalic fibromuscular dysplasia and stroke in infancy: a case report] and review of literature]. / Displasia fibromuscular cefálica e ictus en la infancia: caso clínico y revisión de la literatura.

Fibromuscular dysplasia (DFM) is an arterial lesion of unknown aetiology which affects medium sized arteries and is multifocal. In the cephalic form extracranial arteries may also be affected; the usual clinical finding is an ischaemic stroke related to arterial stenosis or obstruction, or to arterio-arterial thrombo-embolism. Diagnosis of DFM in infancy is exceptional, and unlike the adult forms, affectation of the intracranial arteries is usual. Angiography of the cranial vessels is the most important diagnostic investigation, showing focal lesions with circular stenosis alternating with dilatations of the arterial wall and described as ¿a pile of coins'; or there may be stenosis and obstruction of extracranial and intracranial arteries. We describe the case of an eleven-year-old girl who presented with a motor deficit of sudden onset in relation to a parietal infarct, and in whom angiography of the supra-aortic and intra-cranial trunks showed evidence compatible with DFM of the extracranial internal carotid artery and carotid syphon. We also review the literature of all cases of infantile DFM published to date.