RESUMEN
Slow biphasic complexes (SBC) have been identified in the EEG of patients suffering for inflammatory brain diseases. Their amplitude, location and frequency of appearance were found to correlate with the severity of encephalitis. Other characteristics of SBCs and of EEG traces of patients could reflect the grade of pathology. Here, EEG rhythms are investigated together with SBCs for a better characterization of encephalitis. EEGs have been acquired from pediatric patients: ten controls and ten encephalitic patients. They were split by neurologists into five classes of different severity of the pathology. The relative power of EEG rhythms was found to change significantly in EEGs labeled with different severity scores. Moreover, a significant variation was found in the last seconds before the appearance of an SBC. This information and quantitative indexes characterizing the SBCs were used to build a binary classification decision tree able to identify the classes of severity. True classification rate of the best model was 76.1% (73.5% with leave-one-out test). Moreover, the classification errors were among classes with similar severity scores (precision higher than 80% was achieved considering three instead of five classes). Our classification method may be a promising supporting tool for clinicians to diagnose, assess and make the follow-up of patients with encephalitis.
Asunto(s)
Electroencefalografía , Encefalitis/diagnóstico por imagen , Encefalitis/diagnóstico , Análisis de Ondículas , Algoritmos , Automatización , Niño , HumanosRESUMEN
We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fever, the patient presented confusion and intractable clusters of seizures. Although she underwent multiple examinations investigating all possible etiologies (intracranial infection, autoimmune disease, or toxic and metabolic illness), all results were negative except a feeble positivity to Mycoplasma pneumoniae serum antibodies. SE was initially treated with benzodiazepine followed by administration of barbiturates and subsequent induction of coma because of refractory SE; different antiepileptic drugs (AEDs) were given at different times in a period of 6 weeks but clinical and electroencephalographic improvements were achieved only after continuous infusion of lidocaine. When she recovered from SE, the patient developed severe psychomotor and cognitive impairment associated with cerebral atrophy. Treatment with lidocaine or other alternative drugs in cases of prolonged SE should be taken into account as soon as it becomes clear that the clinical condition is refractory to common AEDs included in available guidelines for SE treatment, to improve the bad outcome of this severe condition, at least limiting the negative effects of prolonged high metabolic demand due to continuous epileptiform activity and/or the possible negative effects of prolonged burst-suppression coma.
Asunto(s)
Anestésicos Locales/uso terapéutico , Encefalitis Viral/complicaciones , Lidocaína/uso terapéutico , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/etiología , Adolescente , Electroencefalografía , Femenino , Estudios de Seguimiento , HumanosRESUMEN
Sequencing of the KCNT1, PLCB1, SCN1A and TBC1D24 loci was performed in six children with typical features of malignant migrating partial seizures of infancy (MMPSI), to verify the presence of potential disease-causing mutations, including those already reported to be associated with the disease. Sanger sequencing failed to identify in these genes the previously reported pathogenic mutations in these patients, while a comprehensive mutational scanning analysis of these four loci by targeted re-sequencing led to detection of both intronic and exonic new variants. Based on the current knowledge, the sequence variants identified here do not allow to predict functional phenotypes that might explain, at least in part, MMPSI symptoms.
Asunto(s)
Epilepsias Parciales/diagnóstico , Epilepsias Parciales/genética , Mutación/genética , Proteínas Portadoras/genética , Femenino , Proteínas Activadoras de GTPasa , Variación Genética , Humanos , Lactante , Masculino , Proteínas de la Membrana , Canal de Sodio Activado por Voltaje NAV1.1/genética , Proteínas del Tejido Nervioso/genética , Fenotipo , Fosfolipasa C beta/genética , Canales de Potasio/genética , Canales de potasio activados por Sodio , Eliminación de SecuenciaRESUMEN
Rolandic epilepsy (RE) is the most common childhood epilepsy syndrome with a good, long-term outcome. Nevertheless, some studies indicate that children with RE have more scholastic and neuropsychological problems than controls. The purpose of this study was to describe neuropsychological findings in a small group of Italian children with RE, focusing on dyslexia and dyscalculia. Possible correlations between these findings and the age-at-onset of seizures, duration of active epilepsy, frequency, type and localization of epileptic discharges were examined. Children affected by RE, aged nine to eleven years were selected from patients admitted to the outpatient service of our Clinic. They underwent cognitive evaluation, specific evaluation for dyslexia and dyscalculia, and awake and sleep EEG recordings. We found two patients out of the ten with dyscalculia, one of whom also had characteristics of dyslexia. This small study suggests that dyscalculia and dyslexia might be more frequent than expected in children with RE. No significant correlations between this finding and EEG, seizure-frequency or age-at-onset of epilepsy were found in our patients.