朱登纳 生酮饮食治疗儿童难治性癫痫课课件.pptVIP

SME （ Dravet syndrome ） ? 2 年后， 75% 的患者能减少 75% 的发作 Dravet syndrome: Ketogenic diet ? Duration on the diet: sixteen of the original 24 children stayed on the diet ? Six patients remained on the diet for 2 years ? Five patients remained on the diet for 3 years ? Five patients for 4 years ? Efficacy of the diet: two years after initiating the diet,16(66.5%) of the initial patients remained on the diet. ? Two (12.5%) patients were seizure free ? Ten (62.5%) patients had a 75-99% decrease in seizures ? The remaining four (25%) patients had a 50-74% decrease in seizures ? Two years after starting the diet,12(75%) children had achieved a75% decrease in their seizures. 31 MAE(Doose syndrome) ? 肯定有效的方法，可以更早期考虑 Treatment MAE: Ketogenic Diet · 81 pt MAE － KD most effective treatment ACTH,ETX － Oguni et al,Neuropeds 2002 · 11 pt MAE － KD 6 pt50%,4 pt 75-100% sz red － Fejermen et al,Adv Neur 2005 · 30 pt MAE － 11 KD, 6 on KD 18 mo,2 sz free 4 50%, red sz － Caraballo et al Enilepsy Disord 2006 32 早发性儿童失神与 GLUT-1 缺陷 ? 10% 的儿童早发失神是由于 GLUT-1 缺陷 ? GLUT-1 缺陷可能比以前认为的更多 ? KD 是 GLUT-1 缺陷唯一有效的疗法 Early onset absence epilepsy due to GLUT1 deficiency(4/34,10%) ? Onset: 2 at 3yrs, 2 at 13-14 mths ? 2 normal intellect, 2 mild intellectual disability ? 2 seizure free on VPA ± LTG ? 2 ongoing absences ? 3 GTCS-12 mths,7yrs,8yrs ? 1 myoclonic seizures at 14 mths ? Mutations: 3 missense, 1 insertion ? Inheritance: 2 de novo, 2 inherited 33 结节性硬化 ? 66% 患者减少 90% 的发作 Ketogenic diet: TSC experience ? 12 patients:7 MGH, 5JHH ? Ages 8-18yr,mean duration of KD 2 years (range 2m-5yr) ? 11/12 experienced50 reduction in seizure frequency at 6mo ? 8/12 had a 90% response ? Kossoff et al,Epilepsia 2005 ? 3 patients treated with KGD-2/3 seizure free ? Age 3.5 years ? 2/3 seizure free within 2 mo of diet initiation, other with significant decrease in seizure frequency ? Coppola,et al, Eur J Paed Neurol 2005 34 FIRES 发热诱发的学龄期严重难治性癫痫性脑病 ? 7/9: 平均在 2 天内终止了发作 FIRES ? FIRES: fever induced refractory epi