Brain iron accumulation in a blood donor family with restless legs syndrome. / Aumento de los depositos cerebrales de hierro en una familia de donantes de sangre con sindrome de piernas inquietas.

INTRODUCTION: The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated. CASE REPORTS: We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years). The neurological examination and electromyographies were normal. A polisomnography showed disturbed nocturnal sleep with a reduction in sleep efficiency and an increased periodic limbs movement index. The cranial MRI showed brain iron deposits in basal ganglia, substantia nigra, red nuclei and dentate nuclei. Phenotypic and genotypic studies rule out genetic haemochromatosis or iron overload. CONCLUSION: The abnormal iron accumulation in the basal ganglia indicated a complex iron metabolism disorder of the central nervous system. Further studies are warranted to confirm our findings and its role in the pathophysiology of RLS.

TITLE: Aumento de los depositos cerebrales de hierro en una familia de donantes de sangre con sindrome de piernas inquietas.Introduccion. La fisiopatologia del sindrome de piernas inquietas (SPI) es compleja. El mecanismo a traves del cual la ferropenia favorece el desarrollo del SPI no esta esclarecido, aunque se sugiere la presencia de una alteracion en la homeostasis cerebral del hierro. Casos clinicos. Se presentan los hallazgos inusuales en una familia de donantes de sangre con SPI. Tres miembros de la misma familia fueron diagnosticados de SPI, cumpliendo los criterios definidos por el grupo internacional para el estudio del SPI (International Restless Legs Syndrome Study Group). Todos eran donantes de sangre habituales (rango de donacion: 10-40 años) y los sintomas de SPI tenian un curso de 3-5 años. La exploracion general y neurologica fue normal en todos los casos, asi como los electromiogramas. El estudio fenotipico y genotipico descarto la presencia de hemocromatosis y otras causas geneticas de sobrecarga cerebral de hierro. Los estudios polisomnograficos mostraron sueño nocturno perturbado, con reduccion de su eficiencia, y un aumento del indice de movimientos periodicos de las piernas. La resonancia magnetica craneal evidencio un aumento de los depositos cerebrales de hierro en los ganglios basales, la sustancia negra, el nucleo rojo y los dentados. Conclusion. Este aumento patologico de los depositos cerebrales de hierro sugiere la presencia de un complejo trastorno del metabolismo cerebral del hierro en nuestros pacientes. Futuros estudios deben confirmar estos hallazgos y profundizar en el estudio de su relacion con la fisiopatologia del SPI.

Predictive value of magnetic resonance for identifying neurovascular compressions in trigeminal neuralgia. / Valor predictivo de la resonancia magnética para la identificación de compresiones neurovasculares en la neuralgia del trigémino.

INTRODUCTION: Microvascular decompression (MVD) is accepted as the only aetiological surgical treatment for refractory classic trigeminal neuralgia (TN). There is therefore increasing interest in establishing the diagnostic and prognostic value of identifying neurovascular compressions (NVC) using preoperative high-resolution three-dimensional magnetic resonance (MRI) in patients with classic TN who are candidates for surgery. METHODS: This observational study includes a series of 74 consecutive patients with classic TN treated with MVD. All patients underwent a preoperative three-dimensional high-resolution MRI with DRIVE sequences to diagnose presence of NVC, as well as the degree, cause, and location of compressions. MRI results were analysed by doctors blinded to surgical findings and subsequently compared to those findings. After a minimum follow-up time of six months, we assessed the surgical outcome and graded it on the Barrow Neurological Institute pain intensity score (BNI score). The prognostic value of the preoperative MRI was estimated using binary logistic regression. RESULTS: Preoperative DRIVE MRI sequences showed a sensitivity of 95% and a specificity of 87%, with a 98% positive predictive value and a 70% negative predictive value. Moreover, Cohen's kappa (CK) indicated a good level of agreement between radiological and surgical findings regarding presence of NVC (CK 0.75), type of compression (CK 0.74) and the site of compression (CK 0.72), with only moderate agreement as to the degree of compression (CK 0.48). After a mean follow-up of 29 months (range 6-100 months), 81% of the patients reported pain control with or without medication (BNI score i-iiiI). Patients with an excellent surgical outcome, i.e. without pain and off medication (BNI score i), made up 66% of the total at the end of follow-up. Univariate analysis using binary logistic regression showed that a diagnosis of NVC on the preoperative MRI was a favorable prognostic factor that significantly increased the odds of obtaining an excellent outcome (OR 0.17, 95% CI 0.04-0.72; P=.02) or an acceptable outcome (OR 0.16, 95% CI 0.04-0.68; P=.01) after MVD. CONCLUSIONS: DRIVE MRI shows high sensitivity and specificity for diagnosing NVC in patients with refractory classic TN and who are candidates for MVD. The finding of NVC on preoperative MRI is a good prognostic factor for long-term pain relief with MVD.

Neurologic emergencies in HIV-negative immunosuppressed patients. / Urgencias neurológicas en el paciente inmunosuprimido no VIH.

HIV-negative immunosuppressed patients comprise a heterogeneous group including transplant patients, patients undergoing treatment with immunosuppressors, uremic patients, alcoholics, undernourished patients, diabetics, patients on dialysis, elderly patients, and those diagnosed with severe or neoplastic processes. Epileptic seizures, focal neurologic signs, and meningoencephalitis are neurologic syndromes that require urgent action. In most of these situations, neuroimaging tests are necessary, but the findings can be different from those observed in immunocompetent patients in function of the inflammatory response. Infectious disease is the first diagnostic suspicion, and the identification of an opportunistic pathogen should be oriented in function of the type and degree of immunosuppression. Other neurologic emergencies include ischemic stroke, cerebral hemorrhage, neoplastic processes, and pharmacological neurotoxicity. This article reviews the role of neuroimaging in HIV-negative immunodepressed patients with a neurologic complication that requires urgent management.

Development and validation of an open source quantification tool for DSC-MRI studies.

MOTIVATION: This work presents the development of an open source tool for the quantification of dynamic susceptibility-weighted contrast-enhanced (DSC) perfusion studies. The development of this tool is motivated by the lack of open source tools implemented on open platforms to allow external developers to implement their own quantification methods easily and without the need of paying for a development license. MATERIALS AND METHODS: This quantification tool was developed as a plugin for the ImageJ image analysis platform using the Java programming language. A modular approach was used in the implementation of the components, in such a way that the addition of new methods can be done without breaking any of the existing functionalities. For the validation process, images from seven patients with brain tumors were acquired and quantified with the presented tool and with a widely used clinical software package. The resulting perfusion parameters were then compared. RESULTS: Perfusion parameters and the corresponding parametric images were obtained. When no gamma-fitting is used, an excellent agreement with the tool used as a gold-standard was obtained (R(2)>0.8 and values are within 95% CI limits in Bland-Altman plots). CONCLUSION: An open source tool that performs quantification of perfusion studies using magnetic resonance imaging has been developed and validated using a clinical software package. It works as an ImageJ plugin and the source code has been published with an open source license.

Experiencia preliminar en el tratamiento combinado de metástasis vertebrales mediante radiofrecuencia y cifoplastia en sesión única / No disponible

Objetivos: Describir nuestra experiencia preliminar en el tratamiento de metástasis vertebrales mediante radiofrecuencia y cifoplastia combinadas en sesión única. Material y métodos: Se trataron cuatro pacientes con metástasis vertebral única confirmada histológicamente (mama, próstata, pulmón y mieloma en D12, L1, L5 y D12, respectivamente). La indicación en todos los casos fue el dolor con una mala respuesta al tratamiento médico habitual. Todos los pacientes presentaban dolor en el rango 6-7 de la escala visual analógica (EVA). En dos casos existía lesión lítica del muro posterior. Tras la obtención del consentimiento informado se realizó el procedimiento bajo sedación e infiltración anestésica local. Se efectuó abordaje transpedicular bilateral con sistemas de punción ósea 11G. Se insertaron de forma coaxial dos agujas de radiofrecuencia para efectuar un ciclo de ablación por cada pedículo. Durante el ciclo de ablación la punta del dispositivo correspondiente se situó en la unión del tercio medio con el tercio anterior del cuerpo vertebral, empleando la segunda aguja como sensor térmico, con su extremo a la altura del muro posterior. La duración de cada ciclo de ablación fue de 8 minutos, alcanzando temperaturas intratumorales de 70-80 ºC. A continuación se realizó cifoplastia transpedicular. Resultados: No se registraron complicaciones intra-periprocedimiento, con alta domiciliaria en las 24 horas siguientes. En todos los pacientes hubo una mejoría inmediata del dolor tras el procedimiento (con dolor de intensidad 1-2 de la EVA). En tres pacientes se retiró progresivamente la medicación analgésica, sin evidencia en ninguno de ellos de progresión local de la enfermedad ni recurrencia-aumento del dolor en el seguimiento (dolor de intensidad 1 de la EVA en un seguimiento en el rango de 8-14 meses). En un paciente no se pudo efectuar seguimiento clínico-radiológico posterior al alta. Conclusión: El empleo de radiofrecuencia asociada a cifoplastia en la enfermedad metastásica vertebral puede contribuir al manejo del dolor refractario al tratamiento médico y al control local de la enfermedad (AU)

Objectives: Describe our preliminary experience in the treatment of vertebral metastases by radiofrequency and Kyphoplasty combined in one single session. Material and methods: Four patients with histologically confirmed single spinal metastasis (breast, prostate, lung and myeloma in L1, L5, D12, D12, respectively) were treated. The indication in all cases was pain with a poor response to medical treatment. All patients had pain in the range 6-7 visual analogue scale (VAS). In two cases there was a lytic lesion of the spinal posterior wall. After obtaining informed consent, and under sedation and local anesthetic the procedure took place. The transpedicular approach took place with a 11 G bone puncture system. Two radiofrequency needles were coaxially inserted to carry out an ablation cycle through each pedicle. During the ablation cycle the tip of the ablation neddle stood between the anterior and middle third of the vertebral body, while the second needle was used as thermal sensor with its end to the height of the vertebral posterior wall. The duration of each cycle of ablation was 8 minutes reaching intratumoral temperatures of 70-80 °C. Transpedicular Kyphoplasty was performed subsequently. Results: No complications were reported during or after the procedure and patients were discharged in the first 24 hours. There was an immediate improvement in pain after the procedure (with a VAS 1-2 intensity pain) in all patients. During follow up, analgesic medication was withdrawn in three patients, and there was no evidence of disease progression or recurrence of pain (pain intensity 1 (VAS) in a follow-up in the range of 8-14 months). Clinical and radiological follow-up after discharge could not be performed on a patient. Conclusion: The use of radio-frequency associated with Kyphoplasty in vertebral metastatic disease can contribute to the management of refractory pain to medical treatment (AU)

Estudio de la perfusión cerebral mediante técnicas de susceptibilidad magnética: técnica y aplicaciones / Studying cerebral perfusion using magnetic susceptibility techniques: technique and applications

Las técnicas de perfusión por resonancia magnética (PRM) permiten la valoración de la microvasculatura cerebral mediante los cambios de señal debidos al paso intravascular de un trazador. La técnica más empleada se basa en la susceptibilidad magnética del gadolinio en secuencias T2* y los parámetros más comúnmente valorados son: el volumen sanguíneo cerebral, el flujo sanguíneo cerebral y el tiempo de tránsito medio. En los estudios de PRM deben considerarse diversos aspectos técnicos como la secuencia empleada, la dosis o la velocidad de inyección del contraste. También debe valorarse la existencia de fuentes de error como las debidas a la fuga de contraste por alteración en la permeabilidad de la barrera hematoencefálica. Las aplicaciones clínicas más extendidas de la PRM incluyen la determinación del grado de agresividad de gliomas, la diferenciación de algunos tipos histológicos tumorales o de lesiones pseudotumorales y la valoración del área de penumbra en la isquemia aguda (AU)

Perfusion MRI makes it possible to evaluate the cerebral microvasculature through changes in signal due to a tracer passing through blood vessels. The most commonly used technique is based on the magnetic susceptibility of gadolinium in T2*-weighted sequences, and the most commonly evaluated parameters are cerebral blood volume, cerebral blood flow, and mean transit time. Diverse technical aspects, like the sequence used, and the dose and speed of contrast material injection, must be taken into account in perfusion MRI studies. It is also essential to consider possible sources of error like contrast material leaks due to changes in the permeability of the blood-brain barrier. The most widely used clinical applications of perfusion MRI include the determination of the degree of aggressiveness of gliomas, the differentiation of some histological types of tumors or pseudotumors, and the evaluation of the penumbral area in acute ischemia (AU)

¿Rombencefalomielitis aguda recurrente del adulto o neuromielitis óptica? A propósito de un caso / Recurrent acute rhombencephalomyelitis in an adult or neuromyelitis optica? Presentation of a case

Introducción: La falta de criterios homogéneos aceptados para la definición de algunas de las patologías desmielinizantes dificulta la caracterización diagnóstica limitando la reproducibilidad de los resultados y las recomendaciones terapéuticas. Especialmente controvertidas son las formas de encefalomielitis recurrentes (EAD-RR) y otras formas infrecuentes de neuromielitis óptica (NMO).Objetivo: Describimos la evolución clínico-radiológica de un caso de EAD-RR del adulto versus NMO, seguida durante 9 años. Paciente y métodos: La paciente debutó con síntomas severos de rombencefalomielitis y la resonancia magnética (RM) craneal y medular mostraron lesiones extensas, con captación de gadolinio en el tronco encefálico y de la médula, acorde con los síntomas clínicos de la paciente. Se excluyó etiología infecciosa, el índice IgG fue normal y fueron negativos los anticuerpos para NMO. Tras tratamiento con corticoides por vía intravenosa y plasmaféresis la recuperación del episodio fue excelente. Durante el seguimiento ha presentado 7 recurrencias, preferentemente medulares, con buena recuperación, que reproducen con severidad variable los mismos síntomas. Desde el inicio ha recibido tratamiento inmunosupresor. Conclusiones: Nuestro caso comparte características clínicas con EAD-RR y NMO e ilustra que, pese a los criterios vigentes, la caracterización diagnóstica de estas entidades no es fácil (AU)

Introduction: The lack of accepted homogeneous criteria for the definition of some demyelinating diseases makes diagnostic characterization difficult and limits data interpretation and therapeutic recommendations. Recurrent encephalomyelitis (ADE-R) along with borderline cases of neuromyelitis optica (NMO) are especially controversial. Objective:To describe the clinical and radiological evolution of an adult-onset ADE-R versus NMO case throughout 9 years of follow-up. Patient and methods: Our patient presented with severe symptoms of rhombencephalomyelitis and the cranial and spinal magnetic resonance imaging (MRI) showed large lesions, with gadolinium enhancement in brainstem and spinal cord, correlating with the clinical picture. Infectious aetiology was excluded, IgG index was normal and NMO antibodies were negative. After treatment with intravenous corticosteroids and plasmapheresis, there was excellent recovery in the acute phase. During follow-up, seven relapses have occurred, mainly in the spinal cord, with good recovery and the same symptomatology, albeit with different severity. Immunosuppressive treatment was introduced since the beginning.Conclusions: Our case shares common features of both ADE-R and NMO, illustrating that diagnostic characterization is not easy in spite of current criteria (AU)

[Studying cerebral perfusion using magnetic susceptibility techniques: technique and applications]. / Estudio de la perfusión cerebral mediante técnicas de susceptibilidad magnética: técnica y aplicaciones.

Perfusion MRI makes it possible to evaluate the cerebral microvasculature through changes in signal due to a tracer passing through blood vessels. The most commonly used technique is based on the magnetic susceptibility of gadolinium in T2*-weighted sequences, and the most commonly evaluated parameters are cerebral blood volume, cerebral blood flow, and mean transit time. Diverse technical aspects, like the sequence used, and the dose and speed of contrast material injection, must be taken into account in perfusion MRI studies. It is also essential to consider possible sources of error like contrast material leaks due to changes in the permeability of the blood-brain barrier. The most widely used clinical applications of perfusion MRI include the determination of the degree of aggressiveness of gliomas, the differentiation of some histological types of tumors or pseudotumors, and the evaluation of the penumbral area in acute ischemia.

[Recurrent acute rhombencephalomyelitis in an adult or neuromyelitis optica? Presentation of a case]. / ¿Rombencefalomielitis aguda recurrente del adulto o neuromielitis óptica? A propósito de un caso.

INTRODUCTION: The lack of accepted homogeneous criteria for the definition of some demyelinating diseases makes diagnostic characterization difficult and limits data interpretation and therapeutic recommendations. Recurrent encephalomyelitis (ADE-R) along with borderline cases of neuromyelitis optica (NMO) are especially controversial. OBJECTIVE: To describe the clinical and radiological evolution of an adult-onset ADE-R versus NMO case throughout 9 years of follow-up. PATIENT AND METHODS: Our patient presented with severe symptoms of rhombencephalomyelitis and the cranial and spinal magnetic resonance imaging (MRI) showed large lesions, with gadolinium enhancement in brainstem and spinal cord, correlating with the clinical picture. Infectious aetiology was excluded, IgG index was normal and NMO antibodies were negative. After treatment with intravenous corticosteroids and plasmapheresis, there was excellent recovery in the acute phase. During follow-up, seven relapses have occurred, mainly in the spinal cord, with good recovery and the same symptomatology, albeit with different severity. Immunosuppressive treatment was introduced since the beginning. CONCLUSIONS: Our case shares common features of both ADE-R and NMO, illustrating that diagnostic characterization is not easy in spite of current criteria.

[Familiar glioblastoma presenting as a true multicentric tumor: etiopathogenic and prognostic features]. / Glioblastoma familiar múltiple de aparición metácrona: implicaciones etiopatogénicas y pronósticas.

Familial glioblastoma multiforme is a rather uncommon entity, being in most cases associated to known genetic disorders (as Turcot syndrome, Li-Fraumeni syndrome, neurofibromatosis, etc.). However, familial gliomas have also been described, although less frequently, independently of these genetic syndromes showing some special features regarding its etiology and clinical manifestations. Less than 10% of gliomas may be considered as true multicentric tumours either synchronous or metachronous in clinical presentation. Metachronous glioblastomas have been associated to better prognosis in some studies, with genetic studies having found clear differences among the tumors within same patients. Familial glioblastoma with metachronous presentation is an exceptional disorder. These tumors show special therapeutic implications due to the limitations of radiotherapy once the patient has already irradiated. A variety of non-specific mutations have been found in these patients but true characterization of this disorder remains unclear and will be based on further genetic studies. We present a clinical report on a patient harbouring a familial and metachronous glioblastoma. The main aspects of this entity are reviewed.

Glioblastoma familiar múltiple de aparición metácrona: implicaciones etiopatogénicas y pronósticas / Familiar glioblastoma presentig as a true multicentric tumor: etiopathogenic and pronostic features

El Glioblastoma multiforme con agregación familiares poco frecuente, asociándose la mayor parte de los casos a síndromes genéticos conocidos (como el síndrome de Turcot, el síndrome de Li-Fraumeni, la neurofibromatosis, etc). Sin embargo, existenotros gliomas familiares no asociados a estos cuadros sindrómicos que, aunque menos frecuentes, han mostrado unas características etiológicas y clínicas diferentes a las de los gliomas esporádicos. Por otra parte, hasta un 10% de los gliomas se consideran verdaderamente multicéntricos, apareciendo de modo síncrono o metácrono. Los glioblastomas de aparición metácrona han mostrado en algunos estudios un mejor pronóstico, habiéndose encontrado trastornos genéticos diferentes en los tumores de un mismo paciente. Los gliomas familiares con presentación metácrona son excepcionales. Estos tumores presentan unas implicaciones terapéuticas especiales por la limitación del tratamiento radioterápico tras el tratamiento inicial. Aunque se han identificado mutaciones variadas en estos pacientes, la identificación precisa de dichos trastornos se basará en el estudio de su sustrato genético específico. Presentamos un caso clínico que combina ambas peculiaridades revisando las características de esta patología

Familial glioblastoma multiforme is a rather uncommonentity, being in most cases associated to known genetic disorders (as Turcot syndrome, Li-Fraumeni syndrome, neurofibromatosis, etc.). However, family algliomas have also been described, although less frequently, independently of these genetic syndromes showing some special features regarding its etiology and clinical manifestations. Less than 10% of gliomas may be considered as true multicentric tumours either synchronous ormetachronous in clinical presentation. Metachronous glioblastomas have been associated to better prognosis in some studies, with genetic studies having found clear differences among the tumors within same patients. Familial glioblastoma with metachronous presentation is an exceptional disorder. These tumors show special therapeutic implications due to the limitations of radiotherapy once the patient has already irradiated. A variety of non-specific mutations have been found in these patients but true characterization of this disorder remains unclear and will be based on further genetic studies. We present a clinical report on a patient harbouring a familial and metachronous glioblastoma. The main aspects of this entity are reviwed

Neuralgia intercostal en hiperostosis esquelética idiopática difusa (HEID) / Intercostal neuralgia in diffuse idiopathic skeletal hyperostosis (DISH)

No disponible