RESUMEN
Dravet syndrome is a form of epilepsy, beginning in early infancy and characterized by repeated long-term seizures that respond poorly to common antiepileptic treatment. In this case report we describe a case of two twin boys, who developed drug-resistant severe seizures at the age of five months. A SNC1A mutation was found, and the twins were diagnosed with Dravet syndrome. Before relevant treatment was initialized the twins had several cases of status epilepticus. The twins responded well to treatment with stiripentol.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Anticonvulsivantes/uso terapéutico , Diagnóstico Diferencial , Dioxolanos/uso terapéutico , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/genética , Fiebre/diagnóstico , Humanos , Recién Nacido , Masculino , Mutación , Canal de Sodio Activado por Voltaje NAV1.1/genética , Gemelos MonocigóticosRESUMEN
During the latest decades the incidence of birth traumas has decreased significantly. Even so the traumas still contribute to an increased mortality and morbidity. We present a case of spontaneous neonatal skull fracture following a normal vaginal delivery. Abnormal facial structure was seen, and the fracture was identified with an MRI. The fractures healed without neurosurgical intervention. Case reports show that even in uncomplicated vaginal deliveries skull fractures can be seen and should be suspected in children with facial abnormalities.
Asunto(s)
Traumatismos del Nacimiento/diagnóstico , Fractura Craneal Deprimida/diagnóstico , Parto Obstétrico/efectos adversos , Femenino , Fracturas Espontáneas/diagnóstico , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Complicaciones del Trabajo de Parto , EmbarazoRESUMEN
This is a case of a married couple with a cluster of empyema. Clusters are rarely seen, but have previously been described in children. Reasons for clustering of empyemas include close relationship between patients, increased susceptibility in patients, increased virulence of the bacteria, co-morbidity and age. Drainage and relevant antibiotic treatment remain key therapies.