婴儿期癫痫性痉挛的检查诊断干预原则及预后_Journal of Epilepsy

Authors：

 王杨阳 ^1,2 , 黄露露 ^1,2 ,  邹丽萍 ¹

1. ;
2. ;

Corresponding author：

邹丽萍, Email: zouliping21@hotmail.com

Keywords：

癫痫; 婴儿期痉挛; 治疗; 预后

DOI：

10.7507/2096-0247.20160046

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癫痫为神经科常见疾病, 而婴儿期为癫痫发作的高峰年龄。婴儿期癫痫中痉挛发作最为常见, 且病因复杂多样。随着遗传学研究的深入, 很多以往未明确病因的婴儿期癫痫性痉挛可能为遗传因素所致, 且可能为皮层起源, 不同的遗传背景提示不同的治疗方案和预后。结合《2015年国际抗癫痫联盟关于婴儿期癫痫管理推荐共识——ILAE儿科委员会协作组报告》及我国的实际情况, 通过回顾文献提出婴儿期癫痫性痉挛的检查诊断、干预原则及预后, 希望对临床医生的工作提供帮助, 从而提高婴儿期癫痫的诊治水平, 更好地改善预后。促肾上腺皮质激素(Adreno cortico tropic hormone, ACTH)大剂量与小剂量应用均有比较良好的治疗效果。ACTH治疗后短时间内的发作控制对于患儿的精神运动发育有利。结节性硬化症患儿的癫痫性痉挛, 氨己烯酸表现出较好的治疗效果。托吡酯对于癫痫控制有一定的效果, 而其他抗癫痫药物、生酮饮食、手术治疗的效果仍不明确。对于代谢性病因所致的癫痫性痉挛, 明确病因非常重要; 结合具体病因采取相应治疗方案即可。不同因素所致婴儿期癫痫性痉挛提示不同的治疗方案。早期全面的筛查明确病因对于指导治疗具有非常重要的意义。在药物选择上, 临床医生一方面应考虑到病因的个体化差异; 另一方面应关注治疗的及时有效性, 从而保证患儿发作的控制及精神运动的发育

Citation： 王杨阳, 黄露露, 邹丽萍. 婴儿期癫痫性痉挛的检查诊断干预原则及预后. Journal of Epilepsy, 2016, 2(3): 247-251. doi: 10.7507/2096-0247.20160046 Copy

1.	中国抗癫痫协会, 临床诊疗指南·癫痫病分册.北京:人民卫生出版社, 2015.
2.	Pellock JM. Infantile spasms:a U.S. consensus report. Epilepsia, 2010, 51(10):2175-2189.
3.	Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures:task force report for the ILAE commission of pediatrics. Epilepsia, 2015, 56(8):1185-1197.
4.	Berg AT, Tsuchida TN, Plouin P, et al. Revised terminology and concepts for organization of seizures and epilepsies:report of the ILAE commission on classification and terminology, 2005 & 2009. Epilepsia, 2010, 51(4):676-685.
5.	de la Vaissiere S, Van Bogaert P, Carrizosa J, et al.Cortical involvement in focal epilepsies with epileptic spasms. Epilepsy Res, 2014, 108(9):1572-1580.
6.	Fosi T, Elia M, Craiu D, et al. Quantitative magnetic resonance imaging evidence for altered structural remodeling of the temporal lobe in west syndrome. Epilepsia, 2015, 56(4):608-616.
7.	Riikonen R. Epidemiological data of West syndrome in Finland. Brain & Development, 2001, 23(7):539-541.
8.	Cowan LD, Hudson LS. The epidemiology and natural history of infantile spasms. Journal of Child Neurology, 1991, 6(4):355-364.
9.	Lagae L, ovic NJ, Nordli D, et al. Treatment and long term outcome in west syndrome:the clinical reality, a multicentre follow up study. Seizure, 2010, 19(3):159-164.
10.	Anne-Lise P, Hirtz D, Wong V, et al. A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. European Journal of Paediatric Neurology Ejpn Official Journal of the European Paediatric Neurology Society, 2014, 18(2):176-182.
11.	Wirrell EC, Glauser T, Mizrahi EM, et al. How should children with west syndrome be efficiently and accurately investigated?. Results From the National Infantile Spasms Consortium. Epilepsia, 2015, 56(4):617-625.
12.	Güveli BT, Çokar Ö, Dörtcan N, et al. Long-term outcomes in patients with west syndrome:An outpatient clinical study. Seizure, 2015, 25(1):68-71.
13.	Kossoff EH, Benbir G, Demirbilek V, et al. Infantile spasms. Neurologist, 2010, 16(2):69-75.
14.	Nelson GR. Management of infantile spasms. Translational Pediatrics, 2015, 4(4):260-270.
15.	Michaud JL. The genetic landscape of infantile spasms. Hum Mol Genet, 2014, 23(18):4846-4858.
16.	Lux AL. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months:a multicentre randomised trial. Lancet Neurology, 2005, 4(11):712-717.
17.	陈国利, 张月华, 秦炯, 等.促肾上腺皮质激素治疗婴儿痉挛的随访研究.中国实用儿科杂志, 2005, 46(09):546-549.
18.	鞠俊, 黄静, 李慧, 等.硫酸镁联合促肾上腺皮质激素治疗婴儿痉挛症开放性临床研究.中国现代神经疾病杂志, 2015, 14(11):461-463..
19.	Zou LP, Wang X, Dong CH, et al.Three-week combination treatment with ACTH + magnesium sulfate versus ACTH monotherapy for infantile spasms:a 24-week, randomized, open-label, follow-up study in China. Clinical Therapeutics, 2010, 32(32):692-700.
20.	刘秀国, 李久伟, 石秀玉, 等.硫酸镁预防婴儿痉挛症ACTH治疗相关性高血压病例对照研究.临床儿科杂志, 2014, 63(11):1013-1015.
21.	邹丽萍, 王旭, 赵维.硫酸镁辅助治疗婴儿痉挛症脑电图变化的对照研究.中华实用儿科临床杂志, 2010, 25(21):1670-1672.
22.	Pavone. Infantile spasms syndrome, west syndrome and related phenotypes:what we know in 2013. Brain Dev, 2014, 36(9):739-751.
23.	Shields WD, Pellock JM. Vigabatrin 35years later-from mechanism of action to benefit-risk considerations. Acta Neurologica Scandinavica, 2011, 124(Suppl192):1-4.
24.	James WL, Abelson MB, Ben-Menachem E, et al. Vigabatrin:2008 update. Epilepsia, 2009, 50(2):163-173.
25.	Zou LP, Lin Q, Qin J, et al. Evaluation of open-label topiramate as primary or adjunctive therapy in infantile spasms. Clinical Neuropharmacology, 2008, 31(2):86-92.
26.	Zou LP, Cai FC, Liu ZS, et al. Prospective study of first-choice topiramate therapy in newly diagnosed infantile spasms. Clinical Neuropharmacology, 2006, 29(6):343-349.
27.	Go CY, Mix E. Evidence-based guideline update:medical treatment of infantile spasms. Report of the guideline development subcommittee of the american academy of neurology and the practice committee of the child neurology society. Neurology, 2012, 78(24):1974-1980.
28.	Kayyali HR, Pellock JM, Shields WD, et al.Ketogenic diet efficacy in the treatment of intractable epileptic spasms. Pediatric Neurology, 2014, 50(3):224-227.
29.	Eun SH, Kang HC, Kim DW, et al. Ketogenic diet for treatment of infantile spasms. Brain & Development, 2006, 28(9):566-571.
30.	胡春辉, 王华.生酮饮食治疗婴儿痉挛25例临床分析.中华实用儿科临床杂志, 2015, 30(7):401-403.
31.	Cross JH, Jayakar P, Nordli D, et al. Proposed criteria for referral and evaluation of children for epilepsy surgery:Recommendations of thesSubcommission for pediatric epilepsy surgery. Epilepsia, 2006, 47(6):952-959.
32.	Cersósimo RO, Delalande O, Duchowny M, et al.Vagus nerve stimulation:effectiveness and tolerability in 64 paediatric patients with refractory epilepsies. Epileptic Disorders, 2011, 13(4):382-388.
33.	Zamponi N, Wieser HG, Guerrini R, et al.Vagus nerve stimulation (VNS) is effective in treating catastrophic epilepsy in very young children. Neurosurgical Review, 2008, 31(3):291-297.
34.	Trevathan E, Murphy CC, Yeargin-Allsopp M. The descriptive epidemiology of infantile spasms among atlanta children. Epilepsia, 1999, 40(6):748-751.
35.	O'Callaghan FJ, Mathern GW. The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms:evidence from the United Kingdom Infantile Spasms Study. Epilepsia, 2011, 52(7):1359-1364.

1. 中国抗癫痫协会, 临床诊疗指南·癫痫病分册.北京:人民卫生出版社, 2015.
2. Pellock JM. Infantile spasms:a U.S. consensus report. Epilepsia, 2010, 51(10):2175-2189.
3. Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures:task force report for the ILAE commission of pediatrics. Epilepsia, 2015, 56(8):1185-1197.
4. Berg AT, Tsuchida TN, Plouin P, et al. Revised terminology and concepts for organization of seizures and epilepsies:report of the ILAE commission on classification and terminology, 2005 & 2009. Epilepsia, 2010, 51(4):676-685.
5. de la Vaissiere S, Van Bogaert P, Carrizosa J, et al.Cortical involvement in focal epilepsies with epileptic spasms. Epilepsy Res, 2014, 108(9):1572-1580.
6. Fosi T, Elia M, Craiu D, et al. Quantitative magnetic resonance imaging evidence for altered structural remodeling of the temporal lobe in west syndrome. Epilepsia, 2015, 56(4):608-616.
7. Riikonen R. Epidemiological data of West syndrome in Finland. Brain & Development, 2001, 23(7):539-541.
8. Cowan LD, Hudson LS. The epidemiology and natural history of infantile spasms. Journal of Child Neurology, 1991, 6(4):355-364.
9. Lagae L, ovic NJ, Nordli D, et al. Treatment and long term outcome in west syndrome:the clinical reality, a multicentre follow up study. Seizure, 2010, 19(3):159-164.
10. Anne-Lise P, Hirtz D, Wong V, et al. A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. European Journal of Paediatric Neurology Ejpn Official Journal of the European Paediatric Neurology Society, 2014, 18(2):176-182.
11. Wirrell EC, Glauser T, Mizrahi EM, et al. How should children with west syndrome be efficiently and accurately investigated?. Results From the National Infantile Spasms Consortium. Epilepsia, 2015, 56(4):617-625.
12. Güveli BT, Çokar Ö, Dörtcan N, et al. Long-term outcomes in patients with west syndrome:An outpatient clinical study. Seizure, 2015, 25(1):68-71.
13. Kossoff EH, Benbir G, Demirbilek V, et al. Infantile spasms. Neurologist, 2010, 16(2):69-75.
14. Nelson GR. Management of infantile spasms. Translational Pediatrics, 2015, 4(4):260-270.
15. Michaud JL. The genetic landscape of infantile spasms. Hum Mol Genet, 2014, 23(18):4846-4858.
16. Lux AL. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months:a multicentre randomised trial. Lancet Neurology, 2005, 4(11):712-717.
17. 陈国利, 张月华, 秦炯, 等.促肾上腺皮质激素治疗婴儿痉挛的随访研究.中国实用儿科杂志, 2005, 46(09):546-549.
18. 鞠俊, 黄静, 李慧, 等.硫酸镁联合促肾上腺皮质激素治疗婴儿痉挛症开放性临床研究.中国现代神经疾病杂志, 2015, 14(11):461-463..
19. Zou LP, Wang X, Dong CH, et al.Three-week combination treatment with ACTH + magnesium sulfate versus ACTH monotherapy for infantile spasms:a 24-week, randomized, open-label, follow-up study in China. Clinical Therapeutics, 2010, 32(32):692-700.
20. 刘秀国, 李久伟, 石秀玉, 等.硫酸镁预防婴儿痉挛症ACTH治疗相关性高血压病例对照研究.临床儿科杂志, 2014, 63(11):1013-1015.
21. 邹丽萍, 王旭, 赵维.硫酸镁辅助治疗婴儿痉挛症脑电图变化的对照研究.中华实用儿科临床杂志, 2010, 25(21):1670-1672.
22. Pavone. Infantile spasms syndrome, west syndrome and related phenotypes:what we know in 2013. Brain Dev, 2014, 36(9):739-751.
23. Shields WD, Pellock JM. Vigabatrin 35years later-from mechanism of action to benefit-risk considerations. Acta Neurologica Scandinavica, 2011, 124(Suppl192):1-4.
24. James WL, Abelson MB, Ben-Menachem E, et al. Vigabatrin:2008 update. Epilepsia, 2009, 50(2):163-173.
25. Zou LP, Lin Q, Qin J, et al. Evaluation of open-label topiramate as primary or adjunctive therapy in infantile spasms. Clinical Neuropharmacology, 2008, 31(2):86-92.
26. Zou LP, Cai FC, Liu ZS, et al. Prospective study of first-choice topiramate therapy in newly diagnosed infantile spasms. Clinical Neuropharmacology, 2006, 29(6):343-349.
27. Go CY, Mix E. Evidence-based guideline update:medical treatment of infantile spasms. Report of the guideline development subcommittee of the american academy of neurology and the practice committee of the child neurology society. Neurology, 2012, 78(24):1974-1980.
28. Kayyali HR, Pellock JM, Shields WD, et al.Ketogenic diet efficacy in the treatment of intractable epileptic spasms. Pediatric Neurology, 2014, 50(3):224-227.
29. Eun SH, Kang HC, Kim DW, et al. Ketogenic diet for treatment of infantile spasms. Brain & Development, 2006, 28(9):566-571.
30. 胡春辉, 王华.生酮饮食治疗婴儿痉挛25例临床分析.中华实用儿科临床杂志, 2015, 30(7):401-403.
31. Cross JH, Jayakar P, Nordli D, et al. Proposed criteria for referral and evaluation of children for epilepsy surgery:Recommendations of thesSubcommission for pediatric epilepsy surgery. Epilepsia, 2006, 47(6):952-959.
32. Cersósimo RO, Delalande O, Duchowny M, et al.Vagus nerve stimulation:effectiveness and tolerability in 64 paediatric patients with refractory epilepsies. Epileptic Disorders, 2011, 13(4):382-388.
33. Zamponi N, Wieser HG, Guerrini R, et al.Vagus nerve stimulation (VNS) is effective in treating catastrophic epilepsy in very young children. Neurosurgical Review, 2008, 31(3):291-297.
34. Trevathan E, Murphy CC, Yeargin-Allsopp M. The descriptive epidemiology of infantile spasms among atlanta children. Epilepsia, 1999, 40(6):748-751.
35. O'Callaghan FJ, Mathern GW. The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms:evidence from the United Kingdom Infantile Spasms Study. Epilepsia, 2011, 52(7):1359-1364.

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婴儿期癫痫性痉挛的检查诊断干预原则及预后

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