嬰兒痙攣是嬰幼兒時期發生的一種難治性癲癇綜合征，可表現為點頭、環抱樣發作，多以成串發作，少數可孤立性發作，發作表現有時輕微，常常被家長忽略而導致延誤治療，也是唯一一種發作癥狀輕微，但會導致嚴重不良后果的癲癇綜合征。其病因種類繁多，雖然目前的研究已達基因水平，但仍有一些病例無法明確病因。其發病機制仍未完全闡明，有多種學說。對其治療嘗試了多種方法，雖然在某些病因為基礎時得到了較好的成果，但多數嬰兒痙攣仍是治療的難題，預后較差，本文主要介紹嬰兒痙攣的治療進展，以供臨床參考。
Citation： 南在元, 郝艷秋. 嬰兒痙攣的治療進展. Journal of Epilepsy, 2019, 5(1): 41-46. doi: 10.7507/2096-0247.20190009 Copy
Copyright ? the editorial department of Journal of Epilepsy of West China Medical Publisher. All rights reserved
| 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. | 謝麒麟, 曹潔. 嬰兒痙攣癥的遺傳學研究進展. 中國實用神經疾病雜志, 2018, 21(3): 340-343. |
| 12. | 劉雨田, 楊光, 王靜, 等. 中國漢族嬰兒痙攣癥兒童 MC2R 基因多態性的分布. 中華保健醫學雜志, 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, 張萍麗, 孫士靜, 等. 維生素 B_6 反應性嬰兒痙攣 2 例報告. 中國實用兒科雜志, 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. | 趙慧, 劉智勝. 嬰兒痙攣癥的藥物治療進展. 深圳中西醫結合雜志, 2015, 25(20): 195-198. |
| 26. | 南在元, 趙敏廷, A-Ra Ko, et al. 氨己烯酸治療嬰兒痙攣的療效和安全性觀察. 兒科藥學雜志, 2018, 24(7): 6-9. |
| 27. | 黃哲和, 葉小燕. 大劑量甲潑尼龍沖擊治療嬰兒痙攣的療效觀察. 中國藥師, 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. | 張雷紅, 孫殿榮, 趙建慧. 嬰兒痙攣的治療進展. 臨床兒科雜志, 2018, 36(1): 69-72. |
| 30. | 羨一心, 陳國洪, 王莉, 等. 生酮飲食添加治療嬰兒痙攣癥的臨床研究. 首都食品與醫藥, 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. | 張艷艷, 韓金芬, 王家勤, 等. ACTH 治療嬰兒痙攣癥的不良事件. 河南科技大學學報 (醫學版), 2016, 34(2): 106-108. |
| 34. | 孟慧琴, 褚新建. 大劑量甲潑尼龍沖擊治療嬰兒痙攣癥的療效及安全性. 兒科藥學雜志, 2018, 24(4): 23-25. |
| 35. | 朱麗娜, 王彩霞, 何芳, 等. 不同劑量促腎上腺皮質激素治療嬰兒痙攣的療效及不良反應. 兒科藥學雜志, 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. | 陳瑩, 張月華. 嬰兒痙攣癥的治療和預后研究進展. 中國循證兒科雜志, 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. | 毛艷. 托吡酯單藥治療嬰幼兒癥狀性癲癇長期隨訪研究. 蘇州: 蘇州大學, 碩士學位論文, 2016. |
| 48. | 李雪華. 癲癇的治療方法研究進展. 臨床合理用藥, 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. | 薛嬌, 楊志仙, 吳燁, 等. 維生素 B6 反應性嬰兒痙攣臨床特征及預后分析. 中華兒科雜志, 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. 生酮飲食療法的臨床方案. 中華實用兒科臨床雜志, 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. | 張峰, 黃文輝, 曹飛鵬, 等. 胼胝體全段切開治療難治性癲癇 20 例分析. 癲癇與神經電生理學雜志, 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. 謝麒麟, 曹潔. 嬰兒痙攣癥的遺傳學研究進展. 中國實用神經疾病雜志, 2018, 21(3): 340-343.
- 12. 劉雨田, 楊光, 王靜, 等. 中國漢族嬰兒痙攣癥兒童 MC2R 基因多態性的分布. 中華保健醫學雜志, 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, 張萍麗, 孫士靜, 等. 維生素 B_6 反應性嬰兒痙攣 2 例報告. 中國實用兒科雜志, 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. 趙慧, 劉智勝. 嬰兒痙攣癥的藥物治療進展. 深圳中西醫結合雜志, 2015, 25(20): 195-198.
- 26. 南在元, 趙敏廷, A-Ra Ko, et al. 氨己烯酸治療嬰兒痙攣的療效和安全性觀察. 兒科藥學雜志, 2018, 24(7): 6-9.
- 27. 黃哲和, 葉小燕. 大劑量甲潑尼龍沖擊治療嬰兒痙攣的療效觀察. 中國藥師, 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. 張雷紅, 孫殿榮, 趙建慧. 嬰兒痙攣的治療進展. 臨床兒科雜志, 2018, 36(1): 69-72.
- 30. 羨一心, 陳國洪, 王莉, 等. 生酮飲食添加治療嬰兒痙攣癥的臨床研究. 首都食品與醫藥, 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. 張艷艷, 韓金芬, 王家勤, 等. ACTH 治療嬰兒痙攣癥的不良事件. 河南科技大學學報 (醫學版), 2016, 34(2): 106-108.
- 34. 孟慧琴, 褚新建. 大劑量甲潑尼龍沖擊治療嬰兒痙攣癥的療效及安全性. 兒科藥學雜志, 2018, 24(4): 23-25.
- 35. 朱麗娜, 王彩霞, 何芳, 等. 不同劑量促腎上腺皮質激素治療嬰兒痙攣的療效及不良反應. 兒科藥學雜志, 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. 陳瑩, 張月華. 嬰兒痙攣癥的治療和預后研究進展. 中國循證兒科雜志, 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. 毛艷. 托吡酯單藥治療嬰幼兒癥狀性癲癇長期隨訪研究. 蘇州: 蘇州大學, 碩士學位論文, 2016.
- 48. 李雪華. 癲癇的治療方法研究進展. 臨床合理用藥, 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. 薛嬌, 楊志仙, 吳燁, 等. 維生素 B6 反應性嬰兒痙攣臨床特征及預后分析. 中華兒科雜志, 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. 生酮飲食療法的臨床方案. 中華實用兒科臨床雜志, 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. 張峰, 黃文輝, 曹飛鵬, 等. 胼胝體全段切開治療難治性癲癇 20 例分析. 癲癇與神經電生理學雜志, 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.
-
Previous Article
良性內側顳葉癲癇的研究進展 -
Next Article
中低收入國家癲癇過早死亡：國際抗癲癇聯盟死亡率專業組系統評價