婴儿痉挛是婴幼儿时期发生的一种难治性癫痫综合征，可表现为点头、环抱样发作，多以成串发作，少数可孤立性发作，发作表现有时轻微，常常被家长忽略而导致延误治疗，也是唯一一种发作症状轻微，但会导致严重不良后果的癫痫综合征。其病因种类繁多，虽然目前的研究已达基因水平，但仍有一些病例无法明确病因。其发病机制仍未完全阐明，有多种学说。对其治疗尝试了多种方法，虽然在某些病因为基础时得到了较好的成果，但多数婴儿痉挛仍是治疗的难题，预后较差，本文主要介绍婴儿痉挛的治疗进展，以供临床参考。
Citation： 南在元, 郝艳秋. 婴儿痉挛的治疗进展. Journal of Epilepsy, 2019, 5(1): 41-46. doi: 10.7507/2096-0247.20190009 Copy
| 1. | West W. On a peculiar form of infantile convulsions. Lancet, 1841, 35(911): 724-725. |
| 2. | Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia, 2017, 58(4): 512-521. |
| 3. | Gibbs EL, Fleming MM, Gibbs FA. Diagnosis and prognosis of hypsarrhythmia and infantile spasms. Pediatrics, 1954, 13(1): 66-73. |
| 4. | Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and west syndrome: consensus statement of the West Delphi group. Epilepsia, 2004, 45(11): 1416-1428. |
| 5. | Duggan MB. Epilepsy in rural Ugandan children: seizure pattern, age of onset and associated findings. Afr Health Sci, 2010, 10(3): 218-225. |
| 6. | Tundidor D, Garciapatterson A, Maria MA, et al. Perinatal maternal and neonatal outcomes in women with gestational diabetes mellitusaccording to fetal sex. Gend Med, 2012, 9(6): 411-417. |
| 7. | Osborne JP, Lux AL, Edwards SW, et al. The undrlying etiology of infantile spasms (West syndrome): information from the United Kingdom infantile spasms study (UKISS) on contemporary causes and their classification. Epilepsia, 2010, 51(10): 2168-2174. |
| 8. | Wirrell EC, Shellhaas RA, Joshi C, 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. |
| 9. | Alves LV, Mello MJG, Bezerra PG, et al. Congenital Zika syndrome and infantile spasms: Case series study. J Child Neurol, 2018, 33(10): 664-666. |
| 10. | Iqarashi A, Okumaura A, Shimojima K, et al. Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation. Brain Dev, 2016, 38(6): 597-600. |
| 11. | 谢麒麟, 曹洁. 婴儿痉挛症的遗传学研究进展. 中国实用神经疾病杂志, 2018, 21(3): 340-343. |
| 12. | 刘雨田, 杨光, 王静, 等. 中国汉族婴儿痉挛症儿童 MC2R 基因多态性的分布. 中华保健医学杂志, 2018, 20(3): 213-216. |
| 13. | Yin X, Tang B, Mao X, et al. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. J Hum Genet, 2018, 63(9): 971-980. |
| 14. | Lemke JR, Bsc RH, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol, 2014, 75(1): 147-154. |
| 15. | Boutry-Kryza N, Labalme A, Ville D, et al. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. EurJ Med Genet, 2015, 58(2): 51-58. |
| 16. | Duan H, Peng J, Kessi M, et al. De novo KCNQ2 mutation in one case of epilepsy of infancy with migrating focal seizures that evolved to infantile spasms. Child Neurol Open, 2018, 5: 2329048X18767738. |
| 17. | Salar S, Moshe SL, Galanopoulou AS. Metabolic etiologies in West syndrome. Epilepsia Open, 2018, 3(2): 134-166. |
| 18. | 代方方, 张萍丽, 孙士静, 等. 维生素 B_6 反应性婴儿痉挛 2 例报告. 中国实用儿科杂志, 2016, 31(2): 159-160. |
| 19. | Alrifai MT, Alshaya MA, Abulaban A, et al. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a Tertiary care center. Pediatric neurology, 2014, 51(3): 390-397. |
| 20. | Yang Z, Yang X, Wu Y, et al. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. Plos One, 2014, 9(3): e92803. |
| 21. | Tarodo SG, Nquyen T, Ranza E, et al. A triad of infantile spasms, nystagmus and a focal tonic seizure. Epileptic Disord, 2018, 20(4): 295-300. |
| 22. | Fox J, Hussain S, Sankar R, et al. Hypothalamic hamartoma with infantile spasms: case report with surgical treatment. Semin Pediatr Neurol, 2018, 26: 115-118. |
| 23. | Alqassas MA, Muthaffar OY, Aljawi AA, et al. Treatment of infantile spasms in Saudi Arabia. Neurosciences, 2018, 23(3): 258-261. |
| 24. | Knupp KG, Coryell J, Nickels KC, et al. Response to treatment in a prospective national infantile spasms cohort. Ann Neurol, 2016, 79(3): 475-484. |
| 25. | 赵慧, 刘智胜. 婴儿痉挛症的药物治疗进展. 深圳中西医结合杂志, 2015, 25(20): 195-198. |
| 26. | 南在元, 赵敏廷, A-Ra Ko, et al. 氨己烯酸治疗婴儿痉挛的疗效和安全性观察. 儿科药学杂志, 2018, 24(7): 6-9. |
| 27. | 黄哲和, 叶小燕. 大剂量甲泼尼龙冲击治疗婴儿痉挛的疗效观察. 中国药师, 2017, 20(1): 104-106. |
| 28. | Hussain SA, Shin JH, Shih EJ, et al. Limited efficacy of the ketogenic diet in the treatment of highly refractory epileptic spasms. Seizure, 2016, 35: 59-64. |
| 29. | 张雷红, 孙殿荣, 赵建慧. 婴儿痉挛的治疗进展. 临床儿科杂志, 2018, 36(1): 69-72. |
| 30. | 羡一心, 陈国洪, 王莉, 等. 生酮饮食添加治疗婴儿痉挛症的临床研究. 首都食品与医药, 2017, 24(14): 52-53. |
| 31. | Caraballo RH, Reyes G, Falsaperla R, et al. Epileptic spasms in clusters with focal EEG paroxysms: a study of 12 patients. Seizure, 2016, 35: 88-92. |
| 32. | Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline upate: 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): 1974-7980. |
| 33. | 张艳艳, 韩金芬, 王家勤, 等. ACTH 治疗婴儿痉挛症的不良事件. 河南科技大学学报 (医学版), 2016, 34(2): 106-108. |
| 34. | 孟慧琴, 褚新建. 大剂量甲泼尼龙冲击治疗婴儿痉挛症的疗效及安全性. 儿科药学杂志, 2018, 24(4): 23-25. |
| 35. | 朱丽娜, 王彩霞, 何芳, 等. 不同剂量促肾上腺皮质激素治疗婴儿痉挛的疗效及不良反应. 儿科药学杂志, 2017, 23(11): 17-19. |
| 36. | Hamano SI, Naqai T, Matsuura R, et al. Treatment of infantile spasms by pediatric neurologists in Japan. Brain Dev, 2018, 40(8): 685-692. |
| 37. | Kobayashi K, Tamai K, Takanashi J, et al. Duration of ACTH therapy for West syndrome. No To Hattatsu, 2001, 33(6): 494-497. |
| 38. | Tibussek D, Klepper J, Korinthenberg R, et al. Treatment of infantile spasms: report of the interdisciplinary guideline committee coordinated by the Geman-Speaking society for Neuropediatrics. Neuropediatrics, 2016, 47(3): 139-150. |
| 39. | 陈莹, 张月华. 婴儿痉挛症的治疗和预后研究进展. 中国循证儿科杂志, 2011, 6(1): 65-70. |
| 40. | Azam M, Bhatti N, Krishin J. Use of ACTH and prednisolone in infantile spasms: experience from a developing country. Seizure, 2005, 14(8): 552-556. |
| 41. | Kossoff EH, Hartman AL, Rubenstein JE, et al. High-dose oral prednisolone for infantile spasms: an effective and less expensive alternative to ACTH. Epilepsy Behav, 2009, 14(4): 674-676. |
| 42. | Wanigasinghe J, Arambepola C, Sri Ranganathan S, et al. The efficacy of moderate-to-high dose oral prednisolone versus low-to-moderate dose intramuscular corticotropin for improvement of hypsarrhythmia in West syndrome: a randomized, single-blind, parallel clinical trial. Pediatr Neurol, 2014, 51(1): 24-30. |
| 43. | Granstrom ML, Gaily E, Liukkonen E. Treatment of infantile spasms: results of a population-based study with Vigabatrin as the first drug for spasms. Epilepsia, 1999, 40(7): 950-957. |
| 44. | Elterman RD, Shields WD, Bittman RM, et al. Vigabatrin for the treatment of infantile spasms: final report of a randomized trial. J Child Neurol, 2010, 25(11): 1340-1347. |
| 45. | Hussain K, Walsh TJ, Chazen JL. Brain MRI findings with Vigabatrin therapy: case report and literature review. Clin Imaging, 2016, 40(1): 180-182. |
| 46. | Abou-Khalil BW. Antiepileptic drugs. Continuum (Minneap Minn). Epilepsy, 2016, 22(1): 132-156. |
| 47. | 毛艳. 托吡酯单药治疗婴幼儿症状性癫痫长期随访研究. 苏州: 苏州大学, 硕士学位论文, 2016. |
| 48. | 李雪华. 癫痫的治疗方法研究进展. 临床合理用药, 2012, 5(6): 155. |
| 49. | Verrotti A, Scaparrotta A, Agostinelli S. Topiramate-induced weight loss: a review. Epilepsy Res, 2011, 95(3): 189-199. |
| 50. | 薛娇, 杨志仙, 吴烨, 等. 维生素 B6 反应性婴儿痉挛临床特征及预后分析. 中华儿科杂志, 2016, 54(2): 141-144. |
| 51. | Ghodke-Puranik Y, Thorn CF, Lamba JK, et al. Valproic acid pathway: pharmacokinetics and pharmacodynamics. PharmacogenetGenomics, 2013, 23(4): 236-241. |
| 52. | Tsao CY. Current trends in the treatment of infantile spasms. Neuropsychiatr Dis Treat, 2009, 5: 289-299. |
| 53. | Lee YJ, Kang HJ. Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy. Brain Dev, 2010, 32(3): 208-212. |
| 54. | 廖建湘. 生酮饮食疗法的临床方案. 中华实用儿科临床杂志, 2013, 28(12): 881-883. |
| 55. | Hirano Y, Oguni H, Shiota M, et al. Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan. Brain Dev, 2015, 37(1): 18-22. |
| 56. | 张峰, 黄文辉, 曹飞鹏, 等. 胼胝体全段切开治疗难治性癫痫 20 例分析. 癫痫与神经电生理学杂志, 2015, 24(3): 133-136. |
| 57. | Shawan A, Bailey C, Maxiner W, et al. Vagus nerve stimulation for refractory epilepsy in children: more to VNS than seizure frequency reduction. Epilepsia, 2009, 50(5): 1220-1228. |
- 1. West W. On a peculiar form of infantile convulsions. Lancet, 1841, 35(911): 724-725.
- 2. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia, 2017, 58(4): 512-521.
- 3. Gibbs EL, Fleming MM, Gibbs FA. Diagnosis and prognosis of hypsarrhythmia and infantile spasms. Pediatrics, 1954, 13(1): 66-73.
- 4. Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and west syndrome: consensus statement of the West Delphi group. Epilepsia, 2004, 45(11): 1416-1428.
- 5. Duggan MB. Epilepsy in rural Ugandan children: seizure pattern, age of onset and associated findings. Afr Health Sci, 2010, 10(3): 218-225.
- 6. Tundidor D, Garciapatterson A, Maria MA, et al. Perinatal maternal and neonatal outcomes in women with gestational diabetes mellitusaccording to fetal sex. Gend Med, 2012, 9(6): 411-417.
- 7. Osborne JP, Lux AL, Edwards SW, et al. The undrlying etiology of infantile spasms (West syndrome): information from the United Kingdom infantile spasms study (UKISS) on contemporary causes and their classification. Epilepsia, 2010, 51(10): 2168-2174.
- 8. Wirrell EC, Shellhaas RA, Joshi C, 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.
- 9. Alves LV, Mello MJG, Bezerra PG, et al. Congenital Zika syndrome and infantile spasms: Case series study. J Child Neurol, 2018, 33(10): 664-666.
- 10. Iqarashi A, Okumaura A, Shimojima K, et al. Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation. Brain Dev, 2016, 38(6): 597-600.
- 11. 谢麒麟, 曹洁. 婴儿痉挛症的遗传学研究进展. 中国实用神经疾病杂志, 2018, 21(3): 340-343.
- 12. 刘雨田, 杨光, 王静, 等. 中国汉族婴儿痉挛症儿童 MC2R 基因多态性的分布. 中华保健医学杂志, 2018, 20(3): 213-216.
- 13. Yin X, Tang B, Mao X, et al. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. J Hum Genet, 2018, 63(9): 971-980.
- 14. Lemke JR, Bsc RH, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol, 2014, 75(1): 147-154.
- 15. Boutry-Kryza N, Labalme A, Ville D, et al. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. EurJ Med Genet, 2015, 58(2): 51-58.
- 16. Duan H, Peng J, Kessi M, et al. De novo KCNQ2 mutation in one case of epilepsy of infancy with migrating focal seizures that evolved to infantile spasms. Child Neurol Open, 2018, 5: 2329048X18767738.
- 17. Salar S, Moshe SL, Galanopoulou AS. Metabolic etiologies in West syndrome. Epilepsia Open, 2018, 3(2): 134-166.
- 18. 代方方, 张萍丽, 孙士静, 等. 维生素 B_6 反应性婴儿痉挛 2 例报告. 中国实用儿科杂志, 2016, 31(2): 159-160.
- 19. Alrifai MT, Alshaya MA, Abulaban A, et al. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a Tertiary care center. Pediatric neurology, 2014, 51(3): 390-397.
- 20. Yang Z, Yang X, Wu Y, et al. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. Plos One, 2014, 9(3): e92803.
- 21. Tarodo SG, Nquyen T, Ranza E, et al. A triad of infantile spasms, nystagmus and a focal tonic seizure. Epileptic Disord, 2018, 20(4): 295-300.
- 22. Fox J, Hussain S, Sankar R, et al. Hypothalamic hamartoma with infantile spasms: case report with surgical treatment. Semin Pediatr Neurol, 2018, 26: 115-118.
- 23. Alqassas MA, Muthaffar OY, Aljawi AA, et al. Treatment of infantile spasms in Saudi Arabia. Neurosciences, 2018, 23(3): 258-261.
- 24. Knupp KG, Coryell J, Nickels KC, et al. Response to treatment in a prospective national infantile spasms cohort. Ann Neurol, 2016, 79(3): 475-484.
- 25. 赵慧, 刘智胜. 婴儿痉挛症的药物治疗进展. 深圳中西医结合杂志, 2015, 25(20): 195-198.
- 26. 南在元, 赵敏廷, A-Ra Ko, et al. 氨己烯酸治疗婴儿痉挛的疗效和安全性观察. 儿科药学杂志, 2018, 24(7): 6-9.
- 27. 黄哲和, 叶小燕. 大剂量甲泼尼龙冲击治疗婴儿痉挛的疗效观察. 中国药师, 2017, 20(1): 104-106.
- 28. Hussain SA, Shin JH, Shih EJ, et al. Limited efficacy of the ketogenic diet in the treatment of highly refractory epileptic spasms. Seizure, 2016, 35: 59-64.
- 29. 张雷红, 孙殿荣, 赵建慧. 婴儿痉挛的治疗进展. 临床儿科杂志, 2018, 36(1): 69-72.
- 30. 羡一心, 陈国洪, 王莉, 等. 生酮饮食添加治疗婴儿痉挛症的临床研究. 首都食品与医药, 2017, 24(14): 52-53.
- 31. Caraballo RH, Reyes G, Falsaperla R, et al. Epileptic spasms in clusters with focal EEG paroxysms: a study of 12 patients. Seizure, 2016, 35: 88-92.
- 32. Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline upate: 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): 1974-7980.
- 33. 张艳艳, 韩金芬, 王家勤, 等. ACTH 治疗婴儿痉挛症的不良事件. 河南科技大学学报 (医学版), 2016, 34(2): 106-108.
- 34. 孟慧琴, 褚新建. 大剂量甲泼尼龙冲击治疗婴儿痉挛症的疗效及安全性. 儿科药学杂志, 2018, 24(4): 23-25.
- 35. 朱丽娜, 王彩霞, 何芳, 等. 不同剂量促肾上腺皮质激素治疗婴儿痉挛的疗效及不良反应. 儿科药学杂志, 2017, 23(11): 17-19.
- 36. Hamano SI, Naqai T, Matsuura R, et al. Treatment of infantile spasms by pediatric neurologists in Japan. Brain Dev, 2018, 40(8): 685-692.
- 37. Kobayashi K, Tamai K, Takanashi J, et al. Duration of ACTH therapy for West syndrome. No To Hattatsu, 2001, 33(6): 494-497.
- 38. Tibussek D, Klepper J, Korinthenberg R, et al. Treatment of infantile spasms: report of the interdisciplinary guideline committee coordinated by the Geman-Speaking society for Neuropediatrics. Neuropediatrics, 2016, 47(3): 139-150.
- 39. 陈莹, 张月华. 婴儿痉挛症的治疗和预后研究进展. 中国循证儿科杂志, 2011, 6(1): 65-70.
- 40. Azam M, Bhatti N, Krishin J. Use of ACTH and prednisolone in infantile spasms: experience from a developing country. Seizure, 2005, 14(8): 552-556.
- 41. Kossoff EH, Hartman AL, Rubenstein JE, et al. High-dose oral prednisolone for infantile spasms: an effective and less expensive alternative to ACTH. Epilepsy Behav, 2009, 14(4): 674-676.
- 42. Wanigasinghe J, Arambepola C, Sri Ranganathan S, et al. The efficacy of moderate-to-high dose oral prednisolone versus low-to-moderate dose intramuscular corticotropin for improvement of hypsarrhythmia in West syndrome: a randomized, single-blind, parallel clinical trial. Pediatr Neurol, 2014, 51(1): 24-30.
- 43. Granstrom ML, Gaily E, Liukkonen E. Treatment of infantile spasms: results of a population-based study with Vigabatrin as the first drug for spasms. Epilepsia, 1999, 40(7): 950-957.
- 44. Elterman RD, Shields WD, Bittman RM, et al. Vigabatrin for the treatment of infantile spasms: final report of a randomized trial. J Child Neurol, 2010, 25(11): 1340-1347.
- 45. Hussain K, Walsh TJ, Chazen JL. Brain MRI findings with Vigabatrin therapy: case report and literature review. Clin Imaging, 2016, 40(1): 180-182.
- 46. Abou-Khalil BW. Antiepileptic drugs. Continuum (Minneap Minn). Epilepsy, 2016, 22(1): 132-156.
- 47. 毛艳. 托吡酯单药治疗婴幼儿症状性癫痫长期随访研究. 苏州: 苏州大学, 硕士学位论文, 2016.
- 48. 李雪华. 癫痫的治疗方法研究进展. 临床合理用药, 2012, 5(6): 155.
- 49. Verrotti A, Scaparrotta A, Agostinelli S. Topiramate-induced weight loss: a review. Epilepsy Res, 2011, 95(3): 189-199.
- 50. 薛娇, 杨志仙, 吴烨, 等. 维生素 B6 反应性婴儿痉挛临床特征及预后分析. 中华儿科杂志, 2016, 54(2): 141-144.
- 51. Ghodke-Puranik Y, Thorn CF, Lamba JK, et al. Valproic acid pathway: pharmacokinetics and pharmacodynamics. PharmacogenetGenomics, 2013, 23(4): 236-241.
- 52. Tsao CY. Current trends in the treatment of infantile spasms. Neuropsychiatr Dis Treat, 2009, 5: 289-299.
- 53. Lee YJ, Kang HJ. Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy. Brain Dev, 2010, 32(3): 208-212.
- 54. 廖建湘. 生酮饮食疗法的临床方案. 中华实用儿科临床杂志, 2013, 28(12): 881-883.
- 55. Hirano Y, Oguni H, Shiota M, et al. Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan. Brain Dev, 2015, 37(1): 18-22.
- 56. 张峰, 黄文辉, 曹飞鹏, 等. 胼胝体全段切开治疗难治性癫痫 20 例分析. 癫痫与神经电生理学杂志, 2015, 24(3): 133-136.
- 57. Shawan A, Bailey C, Maxiner W, et al. Vagus nerve stimulation for refractory epilepsy in children: more to VNS than seizure frequency reduction. Epilepsia, 2009, 50(5): 1220-1228.
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