RESUMEN
OBJECTIVE: This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy. METHODS: A retrospective, observational study was performed, including patients with CDD diagnosis evaluated between 2016 and 2019 at three tertiary Epilepsy Centers. Demographic, electroclinical and genetic features, as well as ASM treatments and their outcomes were analyzed, with special focus on SCBs. RESULTS: Twenty-one patients evaluated at three tertiary Epilepsy Centers were included, of which 19 presented with epilepsy (90.5%); all had pathogenic mutations of CDKL5. Six patients (31.6%) were classified as SCB responders (more than 50% reduction), four being currently seizure free (mean seizure-free period of 8â¯years). Most frequent SCB drugs were oxcarbazepine (OXC), carbamazepine (CBZ), and lacosamide (LCM). None of them presented relevant adverse events. In contrast, three patients showed seizure aggravation in the non-responder group. When comparing both groups, responders had statistically significant younger age at SCB treatment and epilepsy onset, higher proportion of focal epileptiform activity and less frequent history of West syndrome. CONCLUSIONS: The results of this study indicate that treatment with SCBs might be effective and safe in a subset of patients with CDD-related epilepsy.
Asunto(s)
Epilepsia , Bloqueadores de los Canales de Sodio/uso terapéutico , Espasmos Infantiles , Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Síndromes Epilépticos , Humanos , Lactante , Proteínas Serina-Treonina Quinasas/genética , Estudios Retrospectivos , Espasmos Infantiles/complicaciones , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/genéticaRESUMEN
PURPOSE: We hypothesized that epilepsy associated with temporal pole encephaloceles (ETPE) could be the consequence and an unrecognized manifestation of idiopathic intracranial hypertension (IIH). To test this hypothesis in patients with ETPEs we evaluated: 1) the frequency of two radiological signs of IIH and 2) whether these patients develop over time clinical manifestations suggestive of elevated intracranial pressure (ICP). METHODS: Case-control study comparing two cardinal radiological signs of IIH pituitary gland height (PGH) and the diameter of the two optic nerve sheaths (ONS) between 29 patients with ETPEs (TPE group) and 29 patients with focal epilepsy of other etiologies (control group), adjusted by age, sex, body mass index (BMI), age at epilepsy onset and epilepsy duration. Analysis was performed using conventional and ordinal logistic regression. The measurements in both groups were compared with validated radiological criteria of IIH. RESULTS: Of the patients 17 (63%) in the TPE group had all three measurements over the cut-off values for IIH, while no patients in the control group had all three findings. The TPE group patients had lower PGH (3.2⯱ 1.0â¯mm vs. 4.9⯱ 1.3â¯mm, pâ¯< 0.001) and larger diameter of ONS than controls (pâ¯< 0.001), being similar to validated data of IIH. No patient with TPE had clinical manifestations of elevated ICP (mean follow-up 15.1⯱ 11.7 years). CONCLUSION: Patients with ETPEs frequently had radiological signs of IIH while not developing typical manifestations of elevated ICP over time. In this way, ETPEs could be an unrecognized manifestation of IIH, and temporal lobe seizures the only clinical expression of this epilepsy syndrome.
Asunto(s)
Epilepsia , Seudotumor Cerebral , Estudios de Casos y Controles , Encefalocele/diagnóstico por imagen , Humanos , Lóbulo TemporalRESUMEN
OBJECTIVE: This study aimed to evaluate the access to advanced diagnostic tests in patients with epilepsy and intellectual disability, with special focus on genetics. METHODS: Patients with epilepsy and intellectual disability evaluated between 2016 and 2018 at the Epilepsy Unit of two hospitals in Madrid, Spain were included. The main inclusion criterion was an undetermined etiological diagnosis after clinical assessment, neuroimaging, and electroencephalogram (EEG). RESULTS: Two hundred and five patients with epilepsy and intellectual disability were evaluated, with 124 fulfilling the inclusion criteria (mean age: 33.9â¯years). Regarding the etiological workup, advanced neuroimaging, prolonged video-EEG, and any type of genetic test had been performed in 58%, 41%, and 40%, respectively. An etiological diagnosis was reached in 18.5%. The workup was considered incomplete in 67%. Variables that showed the strongest association with an incomplete diagnostic workup in the multivariate analysis were current age and seizure freedom. CONCLUSIONS: Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.
Asunto(s)
Epilepsia/diagnóstico , Epilepsia/genética , Pruebas Genéticas/tendencias , Accesibilidad a los Servicios de Salud/tendencias , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Adolescente , Adulto , Factores de Edad , Anciano , Niño , Preescolar , Electroencefalografía/métodos , Electroencefalografía/tendencias , Epilepsia/epidemiología , Femenino , Pruebas Genéticas/métodos , Humanos , Discapacidad Intelectual/epidemiología , Masculino , Persona de Mediana Edad , España/epidemiología , Adulto JovenAsunto(s)
Ansiedad/epidemiología , Cuidadores/psicología , Infecciones por Coronavirus/epidemiología , Depresión/epidemiología , Síndromes Epilépticos/epidemiología , Accesibilidad a los Servicios de Salud , Neumonía Viral/epidemiología , Adolescente , Anticonvulsivantes/uso terapéutico , Ansiedad/psicología , Betacoronavirus , COVID-19 , Niño , Preescolar , Comorbilidad , Depresión/psicología , Progresión de la Enfermedad , Economía , Síndromes Epilépticos/tratamiento farmacológico , Síndromes Epilépticos/genética , Síndromes Epilépticos/psicología , Femenino , Enfermedades Genéticas Congénitas/epidemiología , Enfermedades Genéticas Congénitas/genética , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Pandemias , Características de la Residencia , SARS-CoV-2RESUMEN
Cannabidiol is a cannabinoid-derived product that has recently been approved for the treatment of pharmacoresistant seizures in patients with epileptic encephalopathies such as Dravet Syndrome and Lennox-Gastaut Syndrome. Short-term side effects of cannabidiol are well know and well-documented in the clinical trials that lead to its approval. Generally, is a well tolerated drug with transitory, dose-dependent mild to moderate effects like somnolence, decreased appetite or diarrhoea. However severe life-threatening reactions can also occur, and are often related to the non-controlled toxic combination with other antiseizure drugs that are widely used in this type of patients like sodium valproate or clobazam. In this brief review we summarize the available data about the short-term adverse events of cannabidiol. Further studies are required to assess the long-term outcome and final resolution of these conditions regarding safety of these patients.
Asunto(s)
Anticonvulsivantes/efectos adversos , Cannabinoides/efectos adversos , Síndrome de Lennox-Gastaut/tratamiento farmacológico , Convulsiones/tratamiento farmacológico , Anticonvulsivantes/uso terapéutico , Cannabidiol/efectos adversos , Cannabidiol/farmacología , Cannabinoides/farmacología , Epilepsia Refractaria/tratamiento farmacológico , HumanosRESUMEN
OBJECTIVES: To describe the neurological manifestations of invasive aspergillosis presenting with a focal neurological deficit compatible with an acute stroke. MATERIALS AND METHODS: Retrospective analysis of a clinical series of patients between 2011 and 2017 with invasive aspergillosis and neurological symptoms compatible with an acute brain stroke. Clinical and epidemiological data, microbiological results, radiological findings, treatment, and course were recorded. RESULTS: Five patients were selected with a mean age of 55.4years. All patients were immunosuppressed. In 4, systemic infection was unknown. In every case, neurology on call was alerted because of acute focal neurological symptoms. None of the patients received revascularization procedures. Galactomannan antigen was positive in all of the patients and culture was positive in 3. Mortality was 100% despite specific antifungal treatment. CONCLUSIONS: Acute stroke can be the first manifestation of disseminated aspergillosis. This form of presentation was frequent in our series and should be suspected in immunocompromised patients with acute neurological deficits.