Abstract:

Objective    To evaluate the effect of ketogenic diet（KD） in patients with Dravet syndrome（DS）. Methods    The seizures，electroencephalogram（EEG） and cognitive function of 46 DS patients receiving treatment of KD from January 2007 to November 2015 in Department of Pediatrics were analyzed retrospectively. Modified Johns Hopkins protocol  was used to initiate KD，and urinary ketone bodies were daily monitored in the patients to maintain the state of ketosis. The effect was evaluated by Engel outcome scale. The EEG， cognition，language，and motor function of the patients were assessed. Results    Totally 46 DS patients（25 boys，21 girls） received treatment of KD more than 12 weeks，and among them 29（63.0%） patients were maintained on the diet more than 24 weeks，16（34.8%） patients more than 48 weeks. Nine patients were seizure free. The seizures in 25 patients were reduced over 50%，and the KD effect was observed within 2 weeks in them.At the end of 12 weeks of treatment with KD，46 patients achieved Ⅰ， Ⅱ， Ⅲ， Ⅳ grade effect，accounting for 19.6%（9/46 cases），13.0%（6/46 cases），21.7%（10/46 cases），and 45.7%（21/46 cases） respectively according to Engel scale. The background rhythm of EEG showed obvious improvement in 6 patients，and interictal seizure discharge frequency decreased significantly. Cognitive function of 15 patients was improved. Language was enhanced in 8 patients. Motor function was improved in 8 patients. The main adverse reactions of KD in the treatment process were mainly gastrointestinal symptoms and metabolic disorders. Conclusion    KD treatment in Dravet syndrome has many advantages，such as fast acting， being effective in more than half of the DS patients and tolerable adverse reactions. Drug resistant DS patients are suggested to receive KD treatment.

Key words: ketogenic diet, Dravet syndrome, effect

摘要：

目的    评估生酮饮食（KD）治疗Dravet综合征（DS）患儿的临床疗效。方法　回顾性研究2007年1月至2015年11月北京大学第一医院儿科采用KD治疗的46例 DS患儿资料，对其临床发作、脑电图（EEG）、认知功能特点进行总结。按照改良的Johns Hopkins方案配制KD，每天监测患儿尿酮体确保酮症状态，应用 Engel分级进行发作疗效评估，并评价KD引入后对患儿认知、 语言、 运动功能改善情况。结果　46例（男25例，女21例）DS患儿KD治疗至少满12周， 其中29例（63.0%）完成24周以上， 16例（34.8%）完成48周以上。9例发作完全控制， 25例发作次数减少＞50%，且均于KD治疗2周内起效。KD治疗12周时，46例患儿中达到Engel分级标准Ⅰ级、 Ⅱ级、 Ⅲ级、 Ⅳ级疗效者分别占19.6%（9/46）、13.0%（6/46）、21.7%（10/46）、45.7%（21/46）。6例复查EEG显示背景节律明显改善，发作间期放电频率明显降低。其中15例认知功能有明显改善，8例语言有进步，8例运动功能有进步。KD治疗过程中的不良反应主要为消化道症状和代谢紊乱。结论　KD治疗DS具有起效迅速、半数患儿可有效减少发作，不良反应可耐受的特点，建议对抗癫痫药物疗效差的DS患儿尝试KD治疗。

关键词: 生酮饮食, Dravet综合征, 疗效