灰质异位与癫痫发作_Journal of Epilepsy

Authors：

邓馨 ,  王薇薇 , 吴逊

北京大学第一医院神经内科（北京 100034）;

Corresponding author：

王薇薇, Email: 13671012265@163.com

Keywords：

灰质异位; 癫痫; 磁共振成像; 脑电图; 外科治疗

DOI：

10.7507/2096-0247.20180080

Video：

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Abstract Full text Figures/Tables Video References Cited by

灰质异位在药物难治性癫痫中并非少见，是胚胎发育阶段神经元移行障碍导致的大脑畸形之一，其主要原因有遗传因素（最常见的是 FLNA 基因突变）、肌动蛋白缺乏及母亲在妊娠期接受 X 线或其他外界因素的影响。灰质异位癫痫发作的机制尚不完全了解，据颅内电极尤其是立体定向脑电图（SEEG）研究发现，发作多起源于异位灰质及相关皮质两者，少数起源于异位灰质或大脑皮质。灰质异位的诊断主要依据为在大脑内有与大脑皮质信号一致的结节、团块或与皮质平行的带状异常。对于合并癫痫发作者头皮脑电图意义不大，颅内电极尤其是 SEEG 可以发现发作的起源、异位灰质与大脑皮质的关系，以及异常网络间的联系，所以 SEEG 是必不可少的检测项目。灰质异位合并的癫痫，绝大多数为药物难治性患者，在 SEEG 指导下的外科治疗可以获得非常好的疗效。

Citation： 邓馨, 王薇薇, 吴逊. 灰质异位与癫痫发作. Journal of Epilepsy, 2018, 4(6): 497-504. doi: 10.7507/2096-0247.20180080 Copy

1.	Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain, 2012, 135(Pt 5): 1348-1369.
2.	Francione S, Kahane P, Tassi L, et al. Stereo-EEG of interictal and ictal electrical activity of a histologically proved heterotopic gray matter associated with partial epilepsy. Electroencephalogr Clin Neurophysiol, 1994, 90(4): 284-290.
3.	Spreafico R, Becker AJ. 143. Pathology of malformation of cortical development. In: Lüders HO (editor). Textbook of Epilepsy Surgery. UK: Informa, 2008: 1354-1356.
4.	刘文钰, 安冬梅, 周东. 中国西部 70 例室管膜下型灰质异位症伴癫痫患者的回顾性研究. 癫痫杂志, 2017, 3(6): 459-464.
5.	Valton L, Guye M, McGonigal A, et al. Functional interactions in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia. Clin Neurophysiol, 2008, 119(1): 212-223.
6.	Battaglia G, Granata T, Farina L, et al. Periventricular nodular heterotopia: epileptogenic findings. Epilepsia, 1997, 38(11): 1173-1182.
7.	Kuzniecky RI, Jackson GD. Chapter 259. Malformations of cortical development. In: Engel Jr J, Pedley TA(editor). Lippincott Williams &Wilkims. USA. 2d edition, 2008: 2575-2588.
8.	Kälviäinen RT, Dörfler A. Chapter22. Structural brain imaging. Heterotopia In: Aminoff MJ, Boller F, Swaab ADF(editors). Handbook of Clinical Neurology. Vol 107. Elsevier. Amsterdam, 2012: 362.
9.	Hung PC, Wang HS, Chou ML, et al. Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients. Eur J Paediatr Neurol, 2016, 20(5): 732-737.
10.	Srour M, Rioux MF, Varga C, et al. The clinical spectrum of nodular heterotopias in children: report of 31 patients. Epilepsia, 2011, 52(4): 728-737.
11.	Raymond AA, Fish DR, Stevens JM, et al. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry, 1994, 57(10): 1195-1202.
12.	Rathakrishnan R, Aghakhari Y, Dubeau F. Chapter 49,Periventricular nodular heterotopia. In: Shorvon SD, Andermann F, Guerrin R(edtors). The cause of epilepsy. Combridge: Combridge University Press, 2011: 322-329.
13.	Battaglia G, Franceschetti S, Chiapparini L, et al. Electroencephalographic recordings of focal seizures in patients affected by periventricular nodular heterotopia: role of the heterotopic nodules in the genesis of epileptic discharges. J Child Neurol, 2005, 20(4): 369-377.
14.	d’Orsi G, Tinuper P, Bisulli F, et al. Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms. J Neurol Neurosurg Psychiatry, 2004, 75(6): 873-878.
15.	Tassi L, Colombo N, Cossu M, et al. Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes. Brain, 2005, 128(Pt 2): 321-337.
16.	Mirandola L, Mai RF, Francione S, et al. Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies. Epilepsia, 2017, 58(11): 1962-1971.
17.	Li LM, Dubeau F, Andermann F, et al. Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. Ann Neurol, 1997, 41(5): 662-668.
18.	Guerrini R, Parrini E. Neuronal migration disorders. Neurobiology of Disease, 2010, 38(2): 154-166.
19.	Parrini E, Ramazzotti A, Dobyns WB, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with filamin a mutations. Brain, 2006, 129(Pt 7): 1892-1906.
20.	Pizzo F, Roehri N, Catenoix H, et al. Epileptogenic networks in nodular heterotopia: a stereoelectroencephalography study. Epilepsia, 2017, 58(12): 2112-2123.
21.	李文, 张美品, 侯仲军, 等. 一例皮下带状灰质异位伴癫痫患者的 DCX 基因突变分析. 中华医学遗传学杂志, 2013, 30(1): 74-78.
22.	欧阳梅, 李淡芳, 张佩琪, 等. 皮层下带状灰质异位的 DCX 和 L6SI 基因检测. 中国神经精神疾病杂志, 2015, 41(10): 629-631.
23.	Mai R, Tassi L, Cossu M, et al. A neuropathological stereo-EEG, and MRI study of subcortical band heterotopia. Neurology, 2003, 60(11): 1834-1838.
24.	Filippi CG, Maxwell AW, Watts R. Magnetic resonance diffusion tensor imaging metrics in perilesional white matter among children with periventricular nodular gray matter heterotopia. Pediatr Radiol, 2013, 43(9): 1196-1203.
25.	Christodoulou JA, Walker LM, Del Tufo SN, et al. Abnormal structural and functional brain connectivity in gray matter heterotopia. Epilepsia, 2012, 53(6): 1024-1032.
26.	Wagner J, Elger, C E, Urbach H, et al. Electric stimulation of periventricular heterotopia: participation in higher cerebral functions. Epilepsy Behav, 2009, 14: 425-428.
27.	Janszky J, Ebner A, Kruse B, et al. Functional organization of the brain with malformations of cortical development. Ann Neurol, 2003, 53(6): 759-767.
28.	Kobayashi E, Bagshaw AP, Grova C, et al. Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. Brain, 2006, 129(Pt 2): 366-374.
29.	Petit LF, Jalabert M, Buhler E, et al. Normotopic cortex is the major contributor to epilepsy in experimental double cortex. Ann Neurol, 2014, 76(3): 428-442.
30.	Aghakhani Y, Kinay D, Gotman J, et al. The role of periventricular nodular heterotopia in epileptogenesis. Brain, 2005, 128(Pt 3): 641-651.
31.	Battaglia G, Chiapparini L, Franceschetti S, et al. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia, 2006, 47(1): 86-97.
32.	黄诚, 牟君, 黄有为. 老年起病的灰质异位一例. 第三军医大学学报, 2010, 32(12): 1315-1320.
33.	王敏, 张旻, 朱遂强, 等. 皮质下带状灰质异位致非惊厥持续状态一例报告. 神经损伤与功能重建, 2016, 11(5): 464-466.
34.	Wieck G, Leventer RJ, Squier WM, et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain, 2005, 128(Pt 12): 2811-2821.
35.	Kitaura H, Oishi M, Takei N, et al. Periventricular nodular heterotopia functionally couples with the overlying hippocampus. Epilepsia, 2012, 53(7): e127-e131.
36.	Jacobs J, Levan P, Chatillon CE, et al. High frequency oscillations in intracranial EEGs mark epileptogenicity rather than lesion type. Brain, 2009, 132(Pt 4): 1022-1037.
37.	Scherer C, Schuele S, Minotti L, et al. Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. Neurology, 2005, 65(3): 495-496.
38.	Kothare SV, VanLandingham K, Armon C, et al. Seizure onset from periventricular nodular heterotopias: depth-electrode study. Neurology, 1998, 51(6): 1723-1727.
39.	Stefan H, Nimsky C, Scheler G, et al. Periventricular nodular heterotopia: A challenge for epilepsy surgery. Seizure, 2007, 16(1): 81-86.
40.	Archer JS, Abbott DF, Masterton RA, et al. Functional MRI interactions between dysplastic nodules and overlying cortex in periventricular nodular heterotopia. Epilepsy Behav, 2010, 19(4): 631-634.
41.	Cunningham CB, Goodyear BG, Badawy R, et al. Intracranial EEG-fMRI analysis of focal epileptiform discharges in humans. Epilepsia, 2012, 53(9): 1636-1648.
42.	刘斋, 何丽, 董强强, 等. 脑室旁结节状灰质异位: 结节的位置与并发其他脑畸形的关系的 MRI 研究. 中国临床医学影像杂志, 2014, 25(4): 229-232.
43.	Pardoe HR, Mandelstam SA, Hiess RK, et al. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. Epilepsy Res, 2015, 109: 40-47.
44.	Farquharson S, Tournier JD, Calamante F, et al. Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractography. Radiology, 2016, 281(3): 896-906.
45.	柴学, 刘文, 肖朝勇, 等. 脑灰质异位磁共振扩散张量成像的定量研究. 中国临床医学影像杂志, 2011, 22(3): 153-156.
46.	朱湘文, 张起强, 许强, 等. 室管膜下型灰质异位脑纤维结构连接的 MR 弥散张量成像研究. 中国临床神经外科杂志, 2012, 17(10): 594-597.
47.	孙吉林, 吴杰, 贾秀川, 等. 磁源性影像在灰质异位症伴癫痫患者癫痫灶定位中的作用. 中华放射学杂志, 2011, 45(1): 42-45.
48.	张奎, 李胜利, 文华轩, 等. 胎儿脑灰质异位的产前诊断及文献回顾. 南方医科大学学报, 2015, 35(12): 1770-1774.
49.	Esquenazi Y, Kalamangalam GP, Slater JD, et al. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. Epilepsy Reseatch, 2014, 108(3): 547-554.
50.	Thompson SA, Kalamangalam GP, Tandon N. Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. Seizure, 2016, 41: 211-216.
51.	Cossu M, Fuschillo D, Casaceli G, et al. Stereoelectroencephalography-guided radio frequency thermocoagulation in the epileptogenic zone: a retrospective study on 89 cases. J Neurosurg, 2015, 123(6): 1358-1367.

1. Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain, 2012, 135(Pt 5): 1348-1369.
2. Francione S, Kahane P, Tassi L, et al. Stereo-EEG of interictal and ictal electrical activity of a histologically proved heterotopic gray matter associated with partial epilepsy. Electroencephalogr Clin Neurophysiol, 1994, 90(4): 284-290.
3. Spreafico R, Becker AJ. 143. Pathology of malformation of cortical development. In: Lüders HO (editor). Textbook of Epilepsy Surgery. UK: Informa, 2008: 1354-1356.
4. 刘文钰, 安冬梅, 周东. 中国西部 70 例室管膜下型灰质异位症伴癫痫患者的回顾性研究. 癫痫杂志, 2017, 3(6): 459-464.
5. Valton L, Guye M, McGonigal A, et al. Functional interactions in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia. Clin Neurophysiol, 2008, 119(1): 212-223.
6. Battaglia G, Granata T, Farina L, et al. Periventricular nodular heterotopia: epileptogenic findings. Epilepsia, 1997, 38(11): 1173-1182.
7. Kuzniecky RI, Jackson GD. Chapter 259. Malformations of cortical development. In: Engel Jr J, Pedley TA(editor). Lippincott Williams &Wilkims. USA. 2d edition, 2008: 2575-2588.
8. Kälviäinen RT, Dörfler A. Chapter22. Structural brain imaging. Heterotopia In: Aminoff MJ, Boller F, Swaab ADF(editors). Handbook of Clinical Neurology. Vol 107. Elsevier. Amsterdam, 2012: 362.
9. Hung PC, Wang HS, Chou ML, et al. Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients. Eur J Paediatr Neurol, 2016, 20(5): 732-737.
10. Srour M, Rioux MF, Varga C, et al. The clinical spectrum of nodular heterotopias in children: report of 31 patients. Epilepsia, 2011, 52(4): 728-737.
11. Raymond AA, Fish DR, Stevens JM, et al. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry, 1994, 57(10): 1195-1202.
12. Rathakrishnan R, Aghakhari Y, Dubeau F. Chapter 49,Periventricular nodular heterotopia. In: Shorvon SD, Andermann F, Guerrin R(edtors). The cause of epilepsy. Combridge: Combridge University Press, 2011: 322-329.
13. Battaglia G, Franceschetti S, Chiapparini L, et al. Electroencephalographic recordings of focal seizures in patients affected by periventricular nodular heterotopia: role of the heterotopic nodules in the genesis of epileptic discharges. J Child Neurol, 2005, 20(4): 369-377.
14. d’Orsi G, Tinuper P, Bisulli F, et al. Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms. J Neurol Neurosurg Psychiatry, 2004, 75(6): 873-878.
15. Tassi L, Colombo N, Cossu M, et al. Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes. Brain, 2005, 128(Pt 2): 321-337.
16. Mirandola L, Mai RF, Francione S, et al. Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies. Epilepsia, 2017, 58(11): 1962-1971.
17. Li LM, Dubeau F, Andermann F, et al. Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. Ann Neurol, 1997, 41(5): 662-668.
18. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiology of Disease, 2010, 38(2): 154-166.
19. Parrini E, Ramazzotti A, Dobyns WB, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with filamin a mutations. Brain, 2006, 129(Pt 7): 1892-1906.
20. Pizzo F, Roehri N, Catenoix H, et al. Epileptogenic networks in nodular heterotopia: a stereoelectroencephalography study. Epilepsia, 2017, 58(12): 2112-2123.
21. 李文, 张美品, 侯仲军, 等. 一例皮下带状灰质异位伴癫痫患者的 DCX 基因突变分析. 中华医学遗传学杂志, 2013, 30(1): 74-78.
22. 欧阳梅, 李淡芳, 张佩琪, 等. 皮层下带状灰质异位的 DCX 和 L6SI 基因检测. 中国神经精神疾病杂志, 2015, 41(10): 629-631.
23. Mai R, Tassi L, Cossu M, et al. A neuropathological stereo-EEG, and MRI study of subcortical band heterotopia. Neurology, 2003, 60(11): 1834-1838.
24. Filippi CG, Maxwell AW, Watts R. Magnetic resonance diffusion tensor imaging metrics in perilesional white matter among children with periventricular nodular gray matter heterotopia. Pediatr Radiol, 2013, 43(9): 1196-1203.
25. Christodoulou JA, Walker LM, Del Tufo SN, et al. Abnormal structural and functional brain connectivity in gray matter heterotopia. Epilepsia, 2012, 53(6): 1024-1032.
26. Wagner J, Elger, C E, Urbach H, et al. Electric stimulation of periventricular heterotopia: participation in higher cerebral functions. Epilepsy Behav, 2009, 14: 425-428.
27. Janszky J, Ebner A, Kruse B, et al. Functional organization of the brain with malformations of cortical development. Ann Neurol, 2003, 53(6): 759-767.
28. Kobayashi E, Bagshaw AP, Grova C, et al. Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. Brain, 2006, 129(Pt 2): 366-374.
29. Petit LF, Jalabert M, Buhler E, et al. Normotopic cortex is the major contributor to epilepsy in experimental double cortex. Ann Neurol, 2014, 76(3): 428-442.
30. Aghakhani Y, Kinay D, Gotman J, et al. The role of periventricular nodular heterotopia in epileptogenesis. Brain, 2005, 128(Pt 3): 641-651.
31. Battaglia G, Chiapparini L, Franceschetti S, et al. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia, 2006, 47(1): 86-97.
32. 黄诚, 牟君, 黄有为. 老年起病的灰质异位一例. 第三军医大学学报, 2010, 32(12): 1315-1320.
33. 王敏, 张旻, 朱遂强, 等. 皮质下带状灰质异位致非惊厥持续状态一例报告. 神经损伤与功能重建, 2016, 11(5): 464-466.
34. Wieck G, Leventer RJ, Squier WM, et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain, 2005, 128(Pt 12): 2811-2821.
35. Kitaura H, Oishi M, Takei N, et al. Periventricular nodular heterotopia functionally couples with the overlying hippocampus. Epilepsia, 2012, 53(7): e127-e131.
36. Jacobs J, Levan P, Chatillon CE, et al. High frequency oscillations in intracranial EEGs mark epileptogenicity rather than lesion type. Brain, 2009, 132(Pt 4): 1022-1037.
37. Scherer C, Schuele S, Minotti L, et al. Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. Neurology, 2005, 65(3): 495-496.
38. Kothare SV, VanLandingham K, Armon C, et al. Seizure onset from periventricular nodular heterotopias: depth-electrode study. Neurology, 1998, 51(6): 1723-1727.
39. Stefan H, Nimsky C, Scheler G, et al. Periventricular nodular heterotopia: A challenge for epilepsy surgery. Seizure, 2007, 16(1): 81-86.
40. Archer JS, Abbott DF, Masterton RA, et al. Functional MRI interactions between dysplastic nodules and overlying cortex in periventricular nodular heterotopia. Epilepsy Behav, 2010, 19(4): 631-634.
41. Cunningham CB, Goodyear BG, Badawy R, et al. Intracranial EEG-fMRI analysis of focal epileptiform discharges in humans. Epilepsia, 2012, 53(9): 1636-1648.
42. 刘斋, 何丽, 董强强, 等. 脑室旁结节状灰质异位: 结节的位置与并发其他脑畸形的关系的 MRI 研究. 中国临床医学影像杂志, 2014, 25(4): 229-232.
43. Pardoe HR, Mandelstam SA, Hiess RK, et al. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. Epilepsy Res, 2015, 109: 40-47.
44. Farquharson S, Tournier JD, Calamante F, et al. Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractography. Radiology, 2016, 281(3): 896-906.
45. 柴学, 刘文, 肖朝勇, 等. 脑灰质异位磁共振扩散张量成像的定量研究. 中国临床医学影像杂志, 2011, 22(3): 153-156.
46. 朱湘文, 张起强, 许强, 等. 室管膜下型灰质异位脑纤维结构连接的 MR 弥散张量成像研究. 中国临床神经外科杂志, 2012, 17(10): 594-597.
47. 孙吉林, 吴杰, 贾秀川, 等. 磁源性影像在灰质异位症伴癫痫患者癫痫灶定位中的作用. 中华放射学杂志, 2011, 45(1): 42-45.
48. 张奎, 李胜利, 文华轩, 等. 胎儿脑灰质异位的产前诊断及文献回顾. 南方医科大学学报, 2015, 35(12): 1770-1774.
49. Esquenazi Y, Kalamangalam GP, Slater JD, et al. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. Epilepsy Reseatch, 2014, 108(3): 547-554.
50. Thompson SA, Kalamangalam GP, Tandon N. Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. Seizure, 2016, 41: 211-216.
51. Cossu M, Fuschillo D, Casaceli G, et al. Stereoelectroencephalography-guided radio frequency thermocoagulation in the epileptogenic zone: a retrospective study on 89 cases. J Neurosurg, 2015, 123(6): 1358-1367.

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