儿童持续性部分性癫痫的诊断算法_Journal of Epilepsy

Authors：

SnehalSurana , ThomasRossor ,  YaelHacohen , 陈晨　译 , 慕洁　审

Corresponding author：

YaelHacohen, Email: y.hacohen@ucl.ac.uk

Keywords：

自身免疫性癫痫; 持续性部分性癫痫; 线粒体疾病; POLG 相关癫痫; Rasmussen 脑炎

DOI：

10.7507/2096-0247.20210042

Video：

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总结一组持续性部分性癫痫（Epilepsia partialis continua，EPC）患儿的特点，并提出一种整合关键鉴别诊断的诊断算法。对 2002 年—2019 年在三级儿科神经病学中心就诊的 EPC 患儿进行分析。54 例患儿符合 EPC 诊断标准。中位发病年龄为 7 岁（0.6～15 岁），中位随访时间为 4.3 年（0.2～16 年）。其中，诊断为 Rasmussen 脑炎（Rasmussen encephalitis，RE）30 例（56%），线粒体疾病 12 例（22.2%），磁共振成像（MRI）阳性病灶相关局灶性癫痫 6 例（11.1%），诊断不明 5 例（9%）。线粒体疾病患儿更早出现 EPC，EPC 发病年龄每增加一年，诊断线粒体疾病的几率降低 26%（P = 0.02）。EPC 发作前存在发育问题（OR=22，P<0.001），EPC 发作前无癫痫发作（OR=22，P<0.001）， EEG 提示双侧半球慢波（OR 26，P<0.001），以及脑脊液（CSF）蛋白水平升高（OR=16）均预示着线粒体疾病。30 例 RE 患儿中有 18 例（60%）出现 EPC 发作时，MRI 提示明显不对称或一侧半球萎缩，其余患儿出现的中位时间则在 EPC 发作后 6 个月（3～15 个月）。首选诊断检查为头部 MRI。一侧半球萎缩结合临床表现及脑电图改变的偏侧性，提示诊断为 RE。对于初次扫描时不能诊断为 RE，但临床和影像学表现提示 RE 的儿童，建议每 6 个月重复影像学检查以排查进行性一侧半球皮质萎缩，并应考虑脑活检，鞘内炎症的证据（寡克隆带和新蝶呤升高）可为佐证。对于存在双侧半球源性 EPC 的患儿，建议进行快速 DNA 聚合酶 γ（POLG）基因检测，如为阴性，则应提取外周血 DNA 进行 mtDNA 测序及全外显子组测序。线粒体病所致 EPC 患儿表现出与 RE 和结构性癫痫不同的临床特征。这一针对 EPC 患儿的诊断算法有助于进行针对性检查并及时诊断。

Citation： SnehalSurana, ThomasRossor, YaelHacohen, 陈晨　译, 慕洁　审. 儿童持续性部分性癫痫的诊断算法. Journal of Epilepsy, 2021, 7(3): 265-272. doi: 10.7507/2096-0247.20210042 Copy

1.	Bien CG, Elger CE. Epilepsia partialis continua: semiology and differential diagnoses. Epileptic Disord, 2008, 10(1): 3-7.
2.	Mameniskiene R, Bast T, Bentes C, et al. Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: a European survey and analysis of 65 cases. Epilepsia, 2011, 52(7): 1168-1176.
3.	Kravljanac R, Djuric M, Jovic N, et al. Etiology, clinical features and outcome of epilepsia partialis continua in cohort of 51 children. Epilepsy Res, 2013, 104(1): 112-117.
4.	Hikmat O, Eichele T, Tzoulis C, et al. Understanding the epilepsy in POLG related disease. Int J Mol Sci, 2017, 18(9): 1845.
5.	Wolf NI, Rahman S, Schmitt B, et al. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia, 2009, 50(9): 1596-1607.
6.	Brodie MJ, Shorvon SD, Canger R, et al. Commission on European Affairs: appropriate standards of epilepsy care across Europe ILEA. Epilepsia, 1997, 38(6): 1245-1250.
7.	Longaretti F, Dunkley C, Varadkar S, et al. Evolution of the EEG in children with Rasmussen's syndrome. Epilepsia, 2012, 53(9): 1539-1545.
8.	Papandreou A, Rahman S, Fratter C, et al. Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. J Inherit Metab Dis, 2018, 41: 1275-1283.
9.	Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol, 2019, 15(1): 40-52.
10.	Li H, Xue J, Qian P, et al. Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children. Brain Dev, 2017, 39(3): 506-514.
11.	Bien CG, Elger CE, Leitner Y, et al. Slowly progressive hemiparesis in childhood as a consequence of Rasmussen encephalitis without or with delayed-onset seizures. Eur J Neurol, 2007, 14(2): 387-390.
12.	Yamazaki E, Takahashi Y, Akasaka N, et al. Temporal changes in brain MRI findings in Rasmussen syndrome. Epileptic Disord, 2011, 13: 229-239.
13.	Varadkar S, Bien CG, Kruse CA, et al. Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances. Lancet Neurol, 2014, 13(1): 195-205.
14.	Fiorella DJ, Provenzale JM, Coleman RE, et al. (18)F-fluorodeoxyglucose positron emission tomography and MR imaging findings in Rasmussen encephalitis. AJNR Am J Neuroradiol, 2001, 22(5): 1291-1299.
15.	Hacohen Y, Singh R, Forsyth V, et al. CSF albumin and immunoglobulin analyses in childhood neurologic disorders. Neurol Neuroimmunol Neuroinflamm, 2014, 1: e10.
16.	Dubey D, Pittock SJ, Kelly CR, et al. Autoimmune encephalitis epidemiology and a comparison to infectious encephalitis. Ann Neurol, 2018, 83(1): 166-177.
17.	Hacohen Y, Banwell B. Treatment approaches for MOG-Ab-associated demyelination in children. Curr Treat Options Neurol, 2019, 21: 2.
18.	Armangue T, Olive-Cirera G, Martinez-Hernandez E, et al. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol, 2020, 19(1): 234-246.
19.	Rossor T, Benetou C, Wright S, et al. Early predictors of epilepsy and subsequent relapse in children with acute disseminated encephalomyelitis. Mult Scler, 2019, 26(3): 333-342.

1. Bien CG, Elger CE. Epilepsia partialis continua: semiology and differential diagnoses. Epileptic Disord, 2008, 10(1): 3-7.
2. Mameniskiene R, Bast T, Bentes C, et al. Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: a European survey and analysis of 65 cases. Epilepsia, 2011, 52(7): 1168-1176.
3. Kravljanac R, Djuric M, Jovic N, et al. Etiology, clinical features and outcome of epilepsia partialis continua in cohort of 51 children. Epilepsy Res, 2013, 104(1): 112-117.
4. Hikmat O, Eichele T, Tzoulis C, et al. Understanding the epilepsy in POLG related disease. Int J Mol Sci, 2017, 18(9): 1845.
5. Wolf NI, Rahman S, Schmitt B, et al. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia, 2009, 50(9): 1596-1607.
6. Brodie MJ, Shorvon SD, Canger R, et al. Commission on European Affairs: appropriate standards of epilepsy care across Europe ILEA. Epilepsia, 1997, 38(6): 1245-1250.
7. Longaretti F, Dunkley C, Varadkar S, et al. Evolution of the EEG in children with Rasmussen's syndrome. Epilepsia, 2012, 53(9): 1539-1545.
8. Papandreou A, Rahman S, Fratter C, et al. Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. J Inherit Metab Dis, 2018, 41: 1275-1283.
9. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol, 2019, 15(1): 40-52.
10. Li H, Xue J, Qian P, et al. Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children. Brain Dev, 2017, 39(3): 506-514.
11. Bien CG, Elger CE, Leitner Y, et al. Slowly progressive hemiparesis in childhood as a consequence of Rasmussen encephalitis without or with delayed-onset seizures. Eur J Neurol, 2007, 14(2): 387-390.
12. Yamazaki E, Takahashi Y, Akasaka N, et al. Temporal changes in brain MRI findings in Rasmussen syndrome. Epileptic Disord, 2011, 13: 229-239.
13. Varadkar S, Bien CG, Kruse CA, et al. Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances. Lancet Neurol, 2014, 13(1): 195-205.
14. Fiorella DJ, Provenzale JM, Coleman RE, et al. (18)F-fluorodeoxyglucose positron emission tomography and MR imaging findings in Rasmussen encephalitis. AJNR Am J Neuroradiol, 2001, 22(5): 1291-1299.
15. Hacohen Y, Singh R, Forsyth V, et al. CSF albumin and immunoglobulin analyses in childhood neurologic disorders. Neurol Neuroimmunol Neuroinflamm, 2014, 1: e10.
16. Dubey D, Pittock SJ, Kelly CR, et al. Autoimmune encephalitis epidemiology and a comparison to infectious encephalitis. Ann Neurol, 2018, 83(1): 166-177.
17. Hacohen Y, Banwell B. Treatment approaches for MOG-Ab-associated demyelination in children. Curr Treat Options Neurol, 2019, 21: 2.
18. Armangue T, Olive-Cirera G, Martinez-Hernandez E, et al. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol, 2020, 19(1): 234-246.
19. Rossor T, Benetou C, Wright S, et al. Early predictors of epilepsy and subsequent relapse in children with acute disseminated encephalomyelitis. Mult Scler, 2019, 26(3): 333-342.

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Journal of Epilepsy

儿童持续性部分性癫痫的诊断算法

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