新發難治性癲癇持續狀態的診治研究進展_Journal of Epilepsy

Authors：

 梁錦平

重慶醫科大學附屬兒童醫院神經內科（重慶 400014）;

Corresponding?author：

梁錦平, Email: 86226277@qq.com

Keywords：

新發難治性癲癇持續狀態; 發熱感染相關性癲癇綜合征; 共識定義; 病理生理學; 診斷; 治療

DOI：

10.7507/2096-0247.20210090

Video：

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Abstract Full text Figures/Tables Video References Cited by

新發難治性癲癇持續狀態（New-onset refractory status epilepticus，NORSE）是一種臨床表現或綜合征，不伴活動性癲癇或其他急性或慢性結構、代謝或中毒原因。發熱感染相關癲癇綜合征（Febrile infection-related epilepsy syndrome，FIRES）是 NORSE 起病時伴或不伴發熱的一種 RSE 亞型。共識定義及其他情況包括嬰兒偏身驚厥-偏癱及癲癇綜合征、超級 RSE 等。NORSE 的治療是一件巨大的臨床挑戰和極低成功率。早期生酮飲食是最佳療效和最具潛力的治療。本文旨在闡明其臨床特征、術語、流行病學、病理機制、診斷困局及治療方法。

Citation： 梁錦平. 新發難治性癲癇持續狀態的診治研究進展. 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, H?usler 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.	梁錦平. 國際抗癲癇聯盟 2017 年版癲癇分類特點及其解讀. 中國實用兒科雜志, 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, H?usler 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. 梁錦平. 國際抗癲癇聯盟 2017 年版癲癇分類特點及其解讀. 中國實用兒科雜志, 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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