RESUMEN

PURPOSE: We evaluated the efficacy and tolerability of the ketogenic diet (KD) on generalised convulsions and status epilepticus (SE) in patients with Dravet syndrome (DS). METHODS: Patients with DS having ≥2 generalised convulsions/month despite drug treatment were included in this study and placed on a KD for 6 months. From 3 months before (baseline) to 6 months after KD initiation, caregivers recorded patients' seizure activity, antiepileptic drug use, and adverse events. The KD efficacy was determined by examining the frequency and duration of seizures at 3 and 6 months vs. baseline. Responders were defined as individuals whose generalised convulsions decreased in frequency by ≥50% vs. baseline. Seizures lasting ≥5 min and SE were specifically evaluated. Patients' cognition was also assessed at 3 and 6 months via questionnaire. RESULTS: Twenty patients continued the KD for at least 3 months. Of the 17 responders identified at month 3, seizures decreased by 50-89% and 90-99% in nine and two patients, respectively; six patients were seizure free. The KD was ineffective in three patients, who discontinued the diet. By month 6, seizures decreased by 50-89% and 90-99% in six and one patient(s), respectively; 10 patients were seizure free. The frequency of other seizure types also improved. During all 6 months, neither generalised convulsions lasting ≥5 min nor SE was detected in the 17 responders. The KD also improved patients' cognition. CONCLUSION: The KD is a good treatment option for medically intractable epilepsy.

Asunto(s)

Dieta Cetogénica , Epilepsia Refractaria/dietoterapia , Epilepsias Mioclónicas/dietoterapia , Convulsiones/dietoterapia , Anticonvulsivantes/uso terapéutico , Cuidadores , Niño , Preescolar , Dieta Cetogénica/efectos adversos , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/fisiopatología , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Prospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/fisiopatología , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento

RESUMEN

Objective To explore the related diseases,main causes and clinical features of children with basal ganglia calcification(BGC).Methods Thirty cases with BGC detected by CT were studied retorspectively,and its clinical symptoms and image were summarized.Results Many factors and diseases were related to BGC,such as hypothyroidism,intrauterine infection,intrauterine hypoxia,epilepsy,posttraumatic cerebral lacunar infarction.Main clinical manifestations of BGC in children were twich,mental retardation,disorders of limb movements etc.The CT scan showed localized punctuate calcification in basal ganglia.Conclusions The main causes of BGC in children are hypothyroidism,intrauterine infection and intrauterine hypoxia,and the clinical manifestations are diverse.For children with CT-detected BGC should diagnose its causes;and for unknown causes cases should strengthen follow-up.