Actualización en el diagnóstico de la encefalitis / Update on the diagnosis of encephalitis

Las encefalitis autoinmunes son procesos inflamatorios cerebrales que se clasifican en dos grandes grupos según el mecanismo patogénico subyacente: las mediadas por anticuerpos vs. antígenos intracelulares (paraneoplásicas) y las mediadas por anticuerpos frente a los antígenos extracelulares o de superficie neuronal. Las manifestaciones clínicas son muy variadas y poco específicas. Las pruebas complementarias incluidas en el diagnóstico clínico de la encefalitis autoinmune incluyen, entre otras, la determinación de anticuerpos en suero o en líquido cefalorraquídeo y la resonancia magnética (RM). La RM puede presentar patrones característicos como la afectación mesial del temporal, aunque en determinados casos puede ser normal. La imagen de tomografía por emisión de positrones (PET/TC) con 18F-Fluorodeoxiglucosa (18F-FDG PET/TC) puede ser de gran utilidad en los casos de encefalitis autoinmunes paraneoplásicas para encontrar el tumor primario. En los casos de encefalitis autoinmunes mediadas por anticuerpos frente a los antígenos extracelulares, la 18F-FDG PET/TC presenta unos patrones que pueden ayudar al diagnóstico clínico. Esta colaboración especial pretende presentar de forma clara y de fácil comprensión las características clínicas de la encefalitis autoinmune, las dificultades en el diagnóstico clínico y los patrones observados en la RM y en la 18F-FDG PET/TC (AU)

Autoimmune encephalitis are brain inflammatory processes that are classified into two main groups according to the underlying pathogenic mechanism: antibodies to intracellular antigens (paraneoplastic) and antibodies to extracellular or neuronal surface antigens. The clinical manifestations of autoimmune encephalitis are very varied and non-specific. Complementary tests included in its clinical diagnosis include determination of antibodies in serum or cerebrospinal fluid and magnetic resonance imaging (MRI). MRI may show characteristic patterns such as mesial temporal involvement, although in some cases it may be normal or non-specific. 18F-Fluorodeoxyglucose PET/CT (18F-FDG PET/CT) imaging may be helpful in cases of paraneoplastic autoimmune encephalitis to find the primary tumor. In autoimmune encephalitis mediated by antibodies to extracellular antigens, 18F-FDG PET/CT shows distinctive patterns that can aid clinical diagnosis. This special collaboration aims to present in a clear and easy-to-understand way, the clinical features of autoimmune encephalitis, the difficulties in clinical diagnosis and the patterns seen on MRI and 18F-FDG PET/CT (AU)

Update on the diagnosis of encephalitis.

Autoimmune encephalitis are brain inflammatory processes that are classified into two main groups according to the underlying pathogenic mechanism: antibodies to intracellular antigens (paraneoplastic) and antibodies to extracellular or neuronal surface antigens. The clinical manifestations of autoimmune encephalitis are very varied and non-specific. Complementary tests included in its clinical diagnosis include determination of antibodies in serum or cerebrospinal fluid and magnetic resonance imaging (MRI). MRI may show characteristic patterns such as mesial temporal involvement, although in some cases it may be normal or non-specific. 18F-Fluorodeoxyglucose PET/CT (18F-FDG PET/CT) imaging may be helpful in cases of paraneoplastic autoimmune encephalitis to find the primary tumor. In autoimmune encephalitis mediated by antibodies to extracellular antigens, 18F-FDG PET/CT shows distinctive patterns that can aid clinical diagnosis. This continuing education aims to present in a clear and easy-to-understand way, the clinical features of autoimmune encephalitis, the difficulties in clinical diagnosis and the patterns seen on MRI and 18F-FDG PET/CT.

Síndrome CLIPPERS. A propósito de un caso / CLIPPERS syndrome: A case report

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Diagnostic delay and outcome in immunocompetent patients with primary central nervous system lymphoma in Spain: a multicentric study.

INTRODUCTION: To assess the management of immunocompetent patients with primary central nervous system lymphomas (PCNSL) in Spain. METHODS: Retrospective analysis of 327 immunocompetent patients with histologically confirmed PCNSL diagnosed between 2005 and 2014 in 27 Spanish hospitals. RESULTS: Median age was 64 years (range: 19-84; 33% ≥ 70 years), 54% were men, and 59% had a performance status (PS) ≥ 2 at diagnosis. Median delay to diagnosis was 47 days (IQR 24-81). Diagnostic delay > 47 days was associated with PS ≥ 2 (OR 1.99; 95% CI 1.13-3.50; p = 0.016) and treatment with corticosteroids (OR 2.47; 95% CI 1.14-5.40; p = 0.023), and it did not improve over the years. Patients treated with corticosteroids (62%) had a higher risk of additional biopsies (11.7% vs 4.0%, p = 0.04) but corticosteroids withdrawal before surgery did not reduce this risk and increased the diagnostic delay (64 vs 40 days, p = 0.04). Median overall survival (OS) was 8.9 months [95% CI 5.9-11.7] for the whole series, including 52 (16%) patients that were not treated, and 14.1 months (95%CI 7.7-20.5) for the 240 (73.4%) patients that received high-dose methotrexate (HD-MTX)-based chemotherapy. Median OS was shorter in patients ≥ 70 years (4.1 vs. 13.4 months; p < 0.0001). Multivariate analysis identified age ≥ 65 years, PS ≥ 2, no treatment, and cognitive/psychiatric symptoms at diagnosis as independent predictors of short survival. CONCLUSIONS: Corticosteroids withdrawal before surgery does not decrease the risk of a negative biopsy but delays diagnosis. In this community-based study, only 73.4% of patients could receive HD-MTX-based chemotherapy and OS remains poor, particularly in elderly patients ≥ 70 years.

Seizure-susceptible brain regions in glioblastoma: identification of patients at risk.

BACKGROUND AND PURPOSE: The main aim of this study was to identify which patients with glioblastoma multiforme (GBM) have a higher risk of presenting seizures during follow-up. METHODS: Patients with newly diagnosed GBM were reviewed (n = 306) and classified as patients with (Group 1) and without (Group 2) seizures at onset. Group 2 was split into patients with seizures during follow-up (Group 2A) and patients who never had seizures (Group 2B). The anatomical location of GBM was identified and compared by voxel-based lesion symptom mapping (discovery set). Seizure-susceptible brain regions obtained were assessed visually and automatically in external GBM validation series (n = 85). RESULTS: In patients with GBM who had no seizures at onset, an increased risk of presenting seizures during follow-up was identified in the superior frontal and inferior occipital lobe, as well as in inferoposterior regions of the temporal lobe. Conversely, those patients with GBM located in medial and inferoanterior temporal areas had a significantly lower risk of suffering from seizures during follow-up. Additionally, the seizure-susceptible brain region maps obtained classified patients in the validation set with high positive and negative predictive values. CONCLUSIONS: Tumor location is a useful marker to identify patients with GBM who are at risk of suffering from seizures during follow-up. These results may help to support the use of antiepileptic prophylaxis in a selected GBM population and to improve stratification in antiepileptic clinical trials.

Descripción de una serie de pacientes con diagnóstico de enfermedad priónica / Clinical and neuroimaging characteristics of 14 patients with prionopathy: A descriptive study

Introducción: Las prionopatías representan hasta el 62% de los casos de demencia rápidamente progresiva (DRP) en los que se alcanza un diagnóstico definitivo. La variabilidad de los síntomas y signos iniciales y las diferencias en su evolución dificultan el diagnóstico precoz. Métodos: Estudio retrospectivo en el que se incluye a pacientes con prionopatía probable o definitiva, que acudieron a la consulta de Neurología de nuestro centro durante el periodo 1999-2012. Se describen las características clínicas y los resultados de las exploraciones complementarias (proteína 14-3-3, EEG, RM, PET-FDG y análisis genético), con la finalidad de identificar qué marcadores permiten un diagnóstico precoz. Resultados: Se describe a 14 pacientes: 6 con enfermedad de Creutzfeldt-Jakob esporádica (ECJe) definitiva, 3 con ECJe probable, 4 con insomnio familiar fatal y uno con la nueva variante de la enfermedad de Creutzfeldt-Jakob. La mediana de edad al diagnóstico fue de 54 años y la mediana de supervivencia de 9,5 meses. El trastorno del ánimo fue el síntoma inicial más frecuente, seguido de inestabilidad de la marcha y deterioro cognitivo. La proteína 14-3-3 fue positiva en el líquido cefalorraquídeo en 7 de 11 pacientes y el EEG mostró signos típicos en 2 de 12 pacientes explorados. El estudio de neuroimagen mostró alteraciones en 13 de los 14 pacientes. Conclusiones: Además de la DRP, el trastorno conductual y de la marcha son síntomas iniciales frecuentes en las prionopatías. En nuestra serie, las pruebas complementarias más útiles para apoyar el diagnóstico fueron la RM y la PET-FDG

Introduction: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. Methods: Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made. Results: A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included. Conclusions: Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied

Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study.

INTRODUCTION: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. METHODS: Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made. RESULTS: A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included. CONCLUSIONS: Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied.

Sensory-motor axonal peripheral neuropathy in an advanced breast cancer patient treated with ixabepilone

Ixabepilone is a novel microtubule-stabilising agent used as monotherapy or in combination with capecitabine to treat taxane- and anthracycline-refractory breast cancer. We report the case of a patient who experienced an unusual motor neuropathy after the first cycle. This is a very uncommon secondary effect, but it must be taken into account as a possible complication of treatment with ixabepilone (AU)

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Síndromes paraneoplásicos clásicos: actitud diagnóstica y terapéutica / Classic paraneoplastic syndromes: diagnostic and treatment approach

Introducción. Los síndromes neurológicos paraneoplásicosson complicaciones importantes del cáncer generalmente mediadaspor un mecanismo inmunopatogénico. Según sus característicasclinicoinmunológicas pueden distinguirse dos grupos.El primero está formado por aquellos síndromes cuya patogeniaestá directamente relacionada con anticuerpos contra antígenosde superficie neuronales, y se asocia a una buena respuestaal tratamiento y a un pronóstico favorable. El segundogrupo lo constituyen los síndromes asociados a anticuerposcontra antígenos intracelulares, en los que predomina un mecanismode inmunidad celular, y que se caracterizan por unarespuesta pobre al tratamiento y un pronóstico malo.Métodos. Estudio clínico-inmunológico y seguimientode cuatro pacientes con síndromes paraneoplásicos clásicos.Resultados. Tres pacientes tenían anticuerpos contraantígenos intracelulares y en un cuarto paciente no se detectóel anticuerpo paraneoplásico. A pesar de la gravedadde los síntomas y de un pronóstico a priori desalentador,una terapia agresiva basada en el tratamiento del tumor einmunoterapia permitió mejorar o, al menos, estabilizar elcuadro clínico en los cuatro casos, resultando en una importantemejoría en su calidad de vida.Conclusiones. El tratamiento precoz del tumor y la inmunoterapiapueden tener un impacto muy positivo en laevolución de la enfermedad y en la calidad de vida de lospacientes con síndromes neurológicos paraneoplásicos alos que se atribuye un pronóstico malo (AU)

Introduction. Paraneoplastic neurological syndromesare important complications of cancer that areusually immune mediated. According to the clinical andimmunological features, two groups of disorders can beconsidered. One group includes disorders mediated byantibodies against cell surface neuronal antigens; thesesyndromes often respond to treatment and have a favorableoutcome. The other group includes disorders associatedwith antibodies against intracellular antigens;these syndromes are likely mediated by T-cell mechanisms,respond poorly to treatment, and have a less favorableoutcome.Methods. Clinical and immunological analysis, andfollow-up of four patients with classical paraneoplasticsyndromes.Results. Three patients had serum and CSF antibodiesto intracellular antigens and one had no detectableantibodies. Despite the severity of the symptoms, promptdetection and treatment of the tumor and immunotherapymodified the course of the disease and resulted insubstantial improvement of the quality of life.Conclusions. Prompt diagnosis of the tumor and immunotherapymay positively impact the clinical outcomeand improve the quality of life of patients with paraneoplasticsyndromes believed to have a poor prognosis (AU)

[Classic paraneoplastic syndromes: diagnostic and treatment approach]. / Síndromes paraneoplásicos clásicos: actitud diagnóstica y terapéutica.

INTRODUCTION: Paraneoplastic neurological syndromes are important complications of cancer that are usually immune mediated. According to the clinical and immunological features, two groups of disorders can be considered. One group includes disorders mediated by antibodies against cell surface neuronal antigens; these syndromes often respond to treatment and have a favorable outcome. The other group includes disorders associated with antibodies against intracellular antigens; these syndromes are likely mediated by T-cell mechanisms, respond poorly to treatment, and have a less favorable outcome. METHODS: Clinical and immunological analysis, and follow-up of four patients with classical paraneoplastic syndromes. RESULTS: Three patients had serum and CSF antibodies to intracellular antigens and one had no detectable antibodies. Despite the severity of the symptoms, prompt detection and treatment of the tumor and immunotherapy modified the course of the disease and resulted in substantial improvement of the quality of life. CONCLUSIONS: Prompt diagnosis of the tumor and immunotherapy may positively impact the clinical outcome and improve the quality of life of patients with paraneoplastic syndromes believed to have a poor prognosis.

[Classification of sleep disorders]. / Clasificación de los trastornos del sueño.

Sleep disorders are frequent processes, both as a symptom associated with other diseases and as independent disorders. However, only in the last 4 decades has Sleep medicine gained its position among the medical specialties. In fact, it was only in these years that significant advances were obtained in the study of the etiology and treatment of these disorders. Similarly, the different classifications have been evolving over the years. First, they were based upon the clinical symptom; later on, more emphasis was given to the diseases. Finally, in 2005, the new classification was once again based on the symptoms. More than 90 disorders are listed in this latest classification, and an attempt is made to include the symptoms and the diseases of sleep, as well as those in which sleep disorders are fundamental. It is essential to have a clear idea of this complete classification of sleep disorders in order to deal with these patients appropriately.

Clasificación de los trastornos del sueño / Classification of sleep disorders

Los trastornos del sueño son una patología muy frecuente tanto aislada, propia como tal, o asociada a otros trastornos. Sin embargo, es una parte de la medicina relativamente nueva, dado que ha sido en los últimos 40 años cuando se ha trabajado realmente en ella, y se han producido los avances tanto diagnósticos como terapéuticos. Las clasificaciones de estas enfermedades han ido sufriendo cierta evolución, fijándose primero en los síntomas, y luego en las enfermedades. La nueva clasificación del 2005 vuelve a basarse en los síntomas. En ella se incluyen más de 90 enfermedades del sueño, y se intentan incluir tanto los síntomas, como las enfermedades propiamente del sueño y aquellas en las que los trastornos del sueño son fundamentales. Conocer y dominar esta completa clasificación es esencial para poder manejar adecuadamente estos pacientes

Sleep disorders are frequent processes, both as a symptom associated with other diseases and as independent disorders. However, only in the last 4 decades has Sleep medicine gained its position among the medical specialties. In fact, it was only in these years that significant advances were obtained in the study of the etiology and treatment of these disorders. Similarly, the different classifications have been evolving over the years. First, they were based upon the clinical symptom; later on, more emphasis was given to the diseases. Finally, in 2005, the new classification was once again based on the symptoms. More than 90 disorders are listed in this latest classification, and an attempt is made to include the symptoms and the diseases of sleep, as well as those in which sleep disorders are fundamental. It is essential to have a clear idea of this complete classification of sleep disorders in order to deal with these patients appropriately

Sobre el futuro de la neurología joven en España / On the future of the young neurologist in Spain

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