Estimulación cerebral profunda en la enfermedad de Parkinson avanzada

La Estimulación Cerebral Profunda es una estrategia terapéutica eficiente en casos bien seleccionados de pacientes con enfermedad de Parkinson avanzada. Este tipo de cirugía consiste en la estimulación eléctrica de la diana seleccionada, mediante la introducción bilateral de dos electrodos. Tiene como objetivo mejorar la sintomatología motora, así como las fluctuaciones on/off que presentan estos pacientes. La diana más usada es el núcleo subtalámico que presenta escasos milímetros de tamaño. El éxito de este tratamiento viene condicionado, en gran medida, por la precisión en la colocación de los electrodos. Es bien conocido que al abrir la duramadre se produce salida de Líquido Céfalo-Raquídeo y entrada de aire, con el consiguiente desplazamiento cerebral que puede afectar a la localización de la diana. Por acción de la gravedad, esta modificación que sufre el cerebro debe ser diferente en función de la colocación de la cabeza del paciente. En nuestro trabajo se ha analizado cómo influye la posición del paciente sobre el desplazamiento cerebral, y sobre la localización de la diana. Igualmente, se ha examinado qué modificaciones sufren las coordenadas de los electrodos cuando el aire empieza a desaparecer y las estructuras cerebrales se reexpanden. A la vista de los resultados de nuestro estudio, se puede concluir que la localización anatómica de la diana se ve influenciada por la orientación del cráneo en la mesa de quirófano. Sin embargo, si se utilizan todas las herramientas disponibles para aumentar la precisión en la colocación de los electrodos, la postura del paciente no resulta determinante

Primary cerebral malignant melanoma in insular region with extracranial metastasis: case report and review literature.

Primary brain melanomas are very infrequent and metastasis outside central nervous system very uncommon. There are some cases in the literature about primary melanoma in the temporal lobe; nevertheless, the insular location has never been described. The patient presented as left insular intraparenchymal hematoma with multiple bleedings. Complementary tests did not show any tumoral nor vascular pattern in relation with these bleedings. A complete surgical resection was performed, and the diagnosis of malignant melanoma, with BRAF mutation, was obtained after histology exam. Extension studies were negative for skin or mucous melanoma. 18F-FDG PET/CT was performed and a metastatic lymph node was found. The diagnosis was primary brain melanoma with extracerebral metastasis. Dabrafenib 150 mg/12 h was the only chemotherapy during 5 months. After that, Trametinib 2 mg/24 h was added to the treatment. Eighteen months after surgery, the patient is independent, with stable situation, and without new metastasis. Although malignant melanomas have poor prognosis, total surgical resection and new therapies are increasing the overall survival and improving quality of life. In a patient with suspected brain melanoma, in spite of having extracerebral metastasis, aggressive treatment may be considered

Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.

Sleep-related hypermotor epilepsy (SHE) is characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. Experts agree that SHE should be considered a unique syndrome. We present 8 cases of SHE for which a genetic diagnosis was carried out using a multigene epilepsy panel. We retrospectively screened familial and isolated cases of SHE in current follow-ups in our center. We included 8 (5F/3M) patients, 5 of whom had a positive familial history of epilepsy. We identified a pathogenic mutation in CHRNA4, CHRNB2, and 3 different pathogenic changes in DEPDC5. Awareness of SHE needs to be raised, given its implications for finding an appropriate treatment, its relationship to cognitive and psychiatric comorbidities, and the opportunity to prevent the disorder in the descendants. We present our series with their clinical, radiological, electroencephalographic, and genetic characteristics, in which we found 3 pathogenic mutations in the DEPDC5 gene but not previously reported in the literature. Identifying new pathogenic mutations or new genes responsible for SHE will facilitate a better understanding of the disease and a correct genetic counseling