梁锦平,
Email: 86226277@qq.com
新发难治性癫痫持续状态(New-onset refractory status epilepticus,NORSE)是一种临床表现或综合征,不伴活动性癫痫或其他急性或慢性结构、代谢或中毒原因。发热感染相关癫痫综合征(Febrile infection-related epilepsy syndrome,FIRES)是 NORSE 起病时伴或不伴发热的一种 RSE 亚型。共识定义及其他情况包括婴儿偏身惊厥-偏瘫及癫痫综合征、超级 RSE 等。NORSE 的治疗是一件巨大的临床挑战和极低成功率。早期生酮饮食是最佳疗效和最具潜力的治疗。本文旨在阐明其临床特征、术语、流行病学、病理机制、诊断困局及治疗方法。
Citation: 梁锦平. 新发难治性癫痫持续状态的诊治研究进展. Journal of Epilepsy, 2021, 7(6): 538-546. doi: 10.7507/2096-0247.20210090 Copy
1. | Brophy GM, Bell R, Claassen J, et al. Guidelines for the Evaluation and Management of Status Epilepticus. Neurocrit Care, 2012, 17(1): 3-23. |
2. | Alvarez V, Westover MB, Drislane FW, et al. Evaluation of a clinical tool for early etiology identification in status epilepticus. Epilepsia, 2015, 55(12): 2059-2068. |
3. | Tan RY, Neligan A, Shorvon SD. The uncommon causes of status epilepticus: a systematic review. Epilepsy Res, 2010, 91(2–3): 111-122. |
4. | Graus F, Titulaer MJ, Balu R, et al. A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol, 2016, 15: 391-404. |
5. | van Baalen A, Häusler M, Boor R, et al. Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia, 2010, 51(7): 1323-1328. |
6. | Jayalakshmi S, Vooturi S. Causes and outcome of new onset status epilepticus and predictors of refractoriness to therapy. J Clin Neurosci, 2016, 2016: 89-94. |
7. | Holzer FJ, Seeck M, Korff CM. Autoimmunity and inflammation in status epilepticus: from concepts to therapies. Expert Rev Neurother, 2014, 14(10): 1181-1202. |
8. | Ismail FY, Kossoff EH. ERRPS, DESC, NORSE, FIRES multilabeling or distinct epileptic entities. Epilepsia, 2011, 52(1): 185-189. |
9. | Gaspard N, Hirsch LJ, Sculier C, et al. New-onset refractory status epilepticus (NORSE) and febrile infection – related epilepsy syndrome(FIRES): state of the art and perspectives. Epilepsia, 2018, 59(4): 745-752. |
10. | Hirsch LJ, Gaspard N, van Baalen A, et al. Proposed consensus definitions for new-onset refractory status epilepticu(NORSE), febrile infection-related epilepsy syndrome(FIRES), and related conditions. Epilepsia, 2018, 59(3): 739-737. |
11. | Baxter P, Clarke A, Cross H, et al. Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status. Seizure, 2003, 12(6): 379-387. |
12. | Specchio N, Fusco L, Claps D, et al. Childhood refractory focal epilepsy following acute febrile encephalopathy. Eur J Neurol, 2011, 18(7): 952-961. |
13. | Nabbout R. FIRES and IHHE: delineation of the syndromes febrile Infection – related. Epilepsia, 2013, 54(1): 54-56. |
14. | Kramer U, Chi C, Lin K, et al. Febrile infection–related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome. A multicenter study on 77 children. Epilepsia, 2011, 52(7): 1956-1965. |
15. | Serino1 D, Santarone ME, Caputo D, et al. Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management Strategies. Neuropsychiatric Disease and Treatment, 2019, 15: 1897-1903. |
16. | Brophy GM, Bell R. Claassen J, et al. Neurocritical care Society Status Epilepticus Guideline writing Committee. Guidlines for the evaluation and management of status epilepticus. Neurocrit Care, 2012, 17: 3-23. |
17. | Iizuka T, Kanazawa N, Kaneko J, et al. Cryptogenic NORSE: Its distinctive clinical features and response to immunotherapy. Neurol Neuroimmunol Neuroinflamm, 2017, 4: 396-402. |
18. | Spatola M, Novy J, Du Pasquier R, et al. Status epilepticus of inflammatory etiology: a cohort study. Neurology, 2016, 86(11): 1076-1085. |
19. | Kantanen AM, Reinikainen M, Parviainen I, et al. Incidence and mortality of super-refractory status epilepticus in adult. Epilepsy Behav, 2015, 49: 131-134. |
20. | Varadkar S, Cross JH. Rasmussen syndrome and other inflammatory epilepsies. Semin Neurol, 2015, 35(3): 259-268. |
21. | Van BA, Vezzani A, Hausler M, et al. Febrile Infection-Related Epilepsy Syndrome: Clinical review and hypotheses of epileptogenesis. Neuropediatrics, 2017, 48(1): 5-18. |
22. | Kortvelyessy P, Lerche H, Weber Y. FIRES and NORSE are distinct entities. Epilepsia, 2012, 53(4): 1276-1282. |
23. | Nicolas, Gaspard, Brandon P, et al. New-onset refractory status epilepticus: Etiology, clinical features, and outcome. Neurology, 2015, 85: 1604-1613. |
24. | Dravet C. Acute encephalopathy after febrile status epilepticus: an under diagnosed, misunderstood complication of Dravet syndrome. Dev Med Child Neurol, 2017, 60: 534. |
25. | Appenzeller S, Helbig I, Stephani U, et al. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Dev Med Child Neurol, 2012, 54(12): 1144-1148. |
26. | Sakuma H, Tanuma N, Kuki I, et al. Intrathecal overproduction of proinflammatory cytokines and chemokines in febrile infection-related refractory status epilepticus. J Neurol Neurosurg Psychiatry, 2015, 86(7): 820-822. |
27. | Saitoh M, Kobayashi K, Ohmori I, et al. Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. J Neurol Sci, 2016, 368: 272-276. |
28. | Miskin C, Hasbani DM. Status epilepticus: immunologic and inflammatory mechanisms. Semin Pediatr Neurol, 2014, 21(3): 221-225. |
29. | Pillai SC, Mohammad SS, Hacohen Y, et al. Postencephalitic epilepsy and drug-resistant epilepsy after infectious and antibody-associated encephalitis in childhood: clinical and etiologic risk factors. Epilepsia, 2016, 57(1): e7-e11. |
30. | Vezzani A, Viviani B. Neuromodulatory properties of inflammatory cytokines and their impact on neuronal excitability. Neuropharmacology, 2015, 96: 70-82. |
31. | Gall CR, Jumma O, Mohanraj R. Five cases of New Onset Refractory Status Epilepticus (NORSE) syndrome: Outcomes with early immunotherapy. Seizure, 2013, 22: 217-220. |
32. | Hon KL, Leung AKC, Torres AR. Febrile infection-related epilepsy syndrome (FIRES): An overview of treatment and recent patents. Recent Patents on Inflammation & Allergy Drug Discovery, 2018, 12: 128-135. |
33. | Li J, SJafarpour S, Hodgeman RM, et al. New-onset status epilepticus in pediatric patients: Causes, characteristics, and outcomes. Pediatr Neurol, 2018, 80: 61-69. |
34. | Bindoff LA. Mitochondrial function and pathology in status epilepticus. Epilepsia, 2011, 52(Suppl8): 6-7. |
35. | 梁锦平. 国际抗癫痫联盟 2017 年版癫痫分类特点及其解读. 中国实用儿科杂志, 2020, 35(1): 47-54. |
36. | Farias-Moeller R, Bartolini L, Staso K, et al. Early ictal and interictal patterns in FIRES: The sparks before the blaze. Epilepsia, 2017, 58(8): 1340-1348. |
37. | Meletti S, Giovannini G, d'Orsi G, et al. New-onset refractory status epilepticus with claustrum damage: Definition of the clinical and neuroimaging features. Front Neurol, 2017, 8: 111-116. |
38. | Cabrera Kang CM, Gaspard N, Laroche SM, et al. Survey of the diagnostic and therapeutic approach to new-onset refractory status epilepticus. Seizure, 2017, 46: 24-30. |
39. | Shorvon S, Ferlisi M. The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol. Brain, 2011, 134(Pt 10): 2802-2818. |
40. | Appavu B, Vanatta L, Condie J, et al. Ketogenic diet treatment for pediatric super-refractory status epilepticus. Seizure, 2016, 41: 62-65. |
41. | Kossoff EH, Zupec-Kania BA, Auvin S, et al. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open, 2018, 3: 175-192. |
42. | Gofshteyn JS, Wilfong A, Devinsky O, et al. Cannabidiol as a potential treatment for febrile infection-related epilepsy syndrome (FIRES) in the acute and chronic phases. J Child Neurol, 2016, 32: 35-40. |
43. | Gofshteyn JS, Wilfong A, Devinsky O, et al. Cannabidiol as a potential treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the acute and chronic phases. J Child Neurol, 2017, 32: 35-40. |
44. | Kenney-Jung DL, Vezzani A, Kahoud RJ, et al. Febrile Infection-Related Epilepsy Syndrome treated with anakinra. Ann Neurol, 2016, 80(6): 939-945. |
45. | Cantarín-Extremera V, Jiménez-Legido M, Duat-Rodríguez A, et al. Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients. Journal of Neuroimmunology, 2020, 340: 577-585. |
46. | Gedela S, Sitwat B, Welch WP, et al. The effect of vagus nerve stimulatoion in controlling status epilepticus in children. Seizure, 2018, 55: 66-69. |
47. | Krajcova A, Waldauf P, Andel M, et al. Propofol Infusion Syndrome: A structured review of experimental studies and 153 published case reports. Crit Care, 2015, 12(19): 398-402. |
48. | Tan WW, Chan DWS, Lee JH, et al. Use of magnesium sulfate infusion for the management of febrile illness-related epilepsy syndrome a case series. Child Neurol Open, 2015, 2: 18-25. |
- 1. Brophy GM, Bell R, Claassen J, et al. Guidelines for the Evaluation and Management of Status Epilepticus. Neurocrit Care, 2012, 17(1): 3-23.
- 2. Alvarez V, Westover MB, Drislane FW, et al. Evaluation of a clinical tool for early etiology identification in status epilepticus. Epilepsia, 2015, 55(12): 2059-2068.
- 3. Tan RY, Neligan A, Shorvon SD. The uncommon causes of status epilepticus: a systematic review. Epilepsy Res, 2010, 91(2–3): 111-122.
- 4. Graus F, Titulaer MJ, Balu R, et al. A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol, 2016, 15: 391-404.
- 5. van Baalen A, Häusler M, Boor R, et al. Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia, 2010, 51(7): 1323-1328.
- 6. Jayalakshmi S, Vooturi S. Causes and outcome of new onset status epilepticus and predictors of refractoriness to therapy. J Clin Neurosci, 2016, 2016: 89-94.
- 7. Holzer FJ, Seeck M, Korff CM. Autoimmunity and inflammation in status epilepticus: from concepts to therapies. Expert Rev Neurother, 2014, 14(10): 1181-1202.
- 8. Ismail FY, Kossoff EH. ERRPS, DESC, NORSE, FIRES multilabeling or distinct epileptic entities. Epilepsia, 2011, 52(1): 185-189.
- 9. Gaspard N, Hirsch LJ, Sculier C, et al. New-onset refractory status epilepticus (NORSE) and febrile infection – related epilepsy syndrome(FIRES): state of the art and perspectives. Epilepsia, 2018, 59(4): 745-752.
- 10. Hirsch LJ, Gaspard N, van Baalen A, et al. Proposed consensus definitions for new-onset refractory status epilepticu(NORSE), febrile infection-related epilepsy syndrome(FIRES), and related conditions. Epilepsia, 2018, 59(3): 739-737.
- 11. Baxter P, Clarke A, Cross H, et al. Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status. Seizure, 2003, 12(6): 379-387.
- 12. Specchio N, Fusco L, Claps D, et al. Childhood refractory focal epilepsy following acute febrile encephalopathy. Eur J Neurol, 2011, 18(7): 952-961.
- 13. Nabbout R. FIRES and IHHE: delineation of the syndromes febrile Infection – related. Epilepsia, 2013, 54(1): 54-56.
- 14. Kramer U, Chi C, Lin K, et al. Febrile infection–related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome. A multicenter study on 77 children. Epilepsia, 2011, 52(7): 1956-1965.
- 15. Serino1 D, Santarone ME, Caputo D, et al. Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management Strategies. Neuropsychiatric Disease and Treatment, 2019, 15: 1897-1903.
- 16. Brophy GM, Bell R. Claassen J, et al. Neurocritical care Society Status Epilepticus Guideline writing Committee. Guidlines for the evaluation and management of status epilepticus. Neurocrit Care, 2012, 17: 3-23.
- 17. Iizuka T, Kanazawa N, Kaneko J, et al. Cryptogenic NORSE: Its distinctive clinical features and response to immunotherapy. Neurol Neuroimmunol Neuroinflamm, 2017, 4: 396-402.
- 18. Spatola M, Novy J, Du Pasquier R, et al. Status epilepticus of inflammatory etiology: a cohort study. Neurology, 2016, 86(11): 1076-1085.
- 19. Kantanen AM, Reinikainen M, Parviainen I, et al. Incidence and mortality of super-refractory status epilepticus in adult. Epilepsy Behav, 2015, 49: 131-134.
- 20. Varadkar S, Cross JH. Rasmussen syndrome and other inflammatory epilepsies. Semin Neurol, 2015, 35(3): 259-268.
- 21. Van BA, Vezzani A, Hausler M, et al. Febrile Infection-Related Epilepsy Syndrome: Clinical review and hypotheses of epileptogenesis. Neuropediatrics, 2017, 48(1): 5-18.
- 22. Kortvelyessy P, Lerche H, Weber Y. FIRES and NORSE are distinct entities. Epilepsia, 2012, 53(4): 1276-1282.
- 23. Nicolas, Gaspard, Brandon P, et al. New-onset refractory status epilepticus: Etiology, clinical features, and outcome. Neurology, 2015, 85: 1604-1613.
- 24. Dravet C. Acute encephalopathy after febrile status epilepticus: an under diagnosed, misunderstood complication of Dravet syndrome. Dev Med Child Neurol, 2017, 60: 534.
- 25. Appenzeller S, Helbig I, Stephani U, et al. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Dev Med Child Neurol, 2012, 54(12): 1144-1148.
- 26. Sakuma H, Tanuma N, Kuki I, et al. Intrathecal overproduction of proinflammatory cytokines and chemokines in febrile infection-related refractory status epilepticus. J Neurol Neurosurg Psychiatry, 2015, 86(7): 820-822.
- 27. Saitoh M, Kobayashi K, Ohmori I, et al. Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. J Neurol Sci, 2016, 368: 272-276.
- 28. Miskin C, Hasbani DM. Status epilepticus: immunologic and inflammatory mechanisms. Semin Pediatr Neurol, 2014, 21(3): 221-225.
- 29. Pillai SC, Mohammad SS, Hacohen Y, et al. Postencephalitic epilepsy and drug-resistant epilepsy after infectious and antibody-associated encephalitis in childhood: clinical and etiologic risk factors. Epilepsia, 2016, 57(1): e7-e11.
- 30. Vezzani A, Viviani B. Neuromodulatory properties of inflammatory cytokines and their impact on neuronal excitability. Neuropharmacology, 2015, 96: 70-82.
- 31. Gall CR, Jumma O, Mohanraj R. Five cases of New Onset Refractory Status Epilepticus (NORSE) syndrome: Outcomes with early immunotherapy. Seizure, 2013, 22: 217-220.
- 32. Hon KL, Leung AKC, Torres AR. Febrile infection-related epilepsy syndrome (FIRES): An overview of treatment and recent patents. Recent Patents on Inflammation & Allergy Drug Discovery, 2018, 12: 128-135.
- 33. Li J, SJafarpour S, Hodgeman RM, et al. New-onset status epilepticus in pediatric patients: Causes, characteristics, and outcomes. Pediatr Neurol, 2018, 80: 61-69.
- 34. Bindoff LA. Mitochondrial function and pathology in status epilepticus. Epilepsia, 2011, 52(Suppl8): 6-7.
- 35. 梁锦平. 国际抗癫痫联盟 2017 年版癫痫分类特点及其解读. 中国实用儿科杂志, 2020, 35(1): 47-54.
- 36. Farias-Moeller R, Bartolini L, Staso K, et al. Early ictal and interictal patterns in FIRES: The sparks before the blaze. Epilepsia, 2017, 58(8): 1340-1348.
- 37. Meletti S, Giovannini G, d'Orsi G, et al. New-onset refractory status epilepticus with claustrum damage: Definition of the clinical and neuroimaging features. Front Neurol, 2017, 8: 111-116.
- 38. Cabrera Kang CM, Gaspard N, Laroche SM, et al. Survey of the diagnostic and therapeutic approach to new-onset refractory status epilepticus. Seizure, 2017, 46: 24-30.
- 39. Shorvon S, Ferlisi M. The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol. Brain, 2011, 134(Pt 10): 2802-2818.
- 40. Appavu B, Vanatta L, Condie J, et al. Ketogenic diet treatment for pediatric super-refractory status epilepticus. Seizure, 2016, 41: 62-65.
- 41. Kossoff EH, Zupec-Kania BA, Auvin S, et al. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open, 2018, 3: 175-192.
- 42. Gofshteyn JS, Wilfong A, Devinsky O, et al. Cannabidiol as a potential treatment for febrile infection-related epilepsy syndrome (FIRES) in the acute and chronic phases. J Child Neurol, 2016, 32: 35-40.
- 43. Gofshteyn JS, Wilfong A, Devinsky O, et al. Cannabidiol as a potential treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the acute and chronic phases. J Child Neurol, 2017, 32: 35-40.
- 44. Kenney-Jung DL, Vezzani A, Kahoud RJ, et al. Febrile Infection-Related Epilepsy Syndrome treated with anakinra. Ann Neurol, 2016, 80(6): 939-945.
- 45. Cantarín-Extremera V, Jiménez-Legido M, Duat-Rodríguez A, et al. Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients. Journal of Neuroimmunology, 2020, 340: 577-585.
- 46. Gedela S, Sitwat B, Welch WP, et al. The effect of vagus nerve stimulatoion in controlling status epilepticus in children. Seizure, 2018, 55: 66-69.
- 47. Krajcova A, Waldauf P, Andel M, et al. Propofol Infusion Syndrome: A structured review of experimental studies and 153 published case reports. Crit Care, 2015, 12(19): 398-402.
- 48. Tan WW, Chan DWS, Lee JH, et al. Use of magnesium sulfate infusion for the management of febrile illness-related epilepsy syndrome a case series. Child Neurol Open, 2015, 2: 18-25.
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