灰質異位與癲癇發作_Journal of Epilepsy

Authors：

鄧馨 ,  王薇薇 , 吳遜

北京大學第一醫院神經內科（北京 100034）;

Corresponding?author：

王薇薇, Email: 13671012265@163.com

Keywords：

灰質異位; 癲癇; 磁共振成像; 腦電圖; 外科治療

DOI：

10.7507/2096-0247.20180080

Video：

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Abstract Full text Figures/Tables Video References Cited by

灰質異位在藥物難治性癲癇中并非少見，是胚胎發育階段神經元移行障礙導致的大腦畸形之一，其主要原因有遺傳因素（最常見的是 FLNA 基因突變）、肌動蛋白缺乏及母親在妊娠期接受 X 線或其他外界因素的影響。灰質異位癲癇發作的機制尚不完全了解，據顱內電極尤其是立體定向腦電圖（SEEG）研究發現，發作多起源于異位灰質及相關皮質兩者，少數起源于異位灰質或大腦皮質。灰質異位的診斷主要依據為在大腦內有與大腦皮質信號一致的結節、團塊或與皮質平行的帶狀異常。對于合并癲癇發作者頭皮腦電圖意義不大，顱內電極尤其是 SEEG 可以發現發作的起源、異位灰質與大腦皮質的關系，以及異常網絡間的聯系，所以 SEEG 是必不可少的檢測項目。灰質異位合并的癲癇，絕大多數為藥物難治性患者，在 SEEG 指導下的外科治療可以獲得非常好的療效。

Citation： 鄧馨, 王薇薇, 吳遜. 灰質異位與癲癇發作. 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.	劉文鈺, 安冬梅, 周東. 中國西部 70 例室管膜下型灰質異位癥伴癲癇患者的回顧性研究. 癲癇雜志, 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.	K?lvi?inen RT, D?rfler 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, 張美品, 侯仲軍, 等. 一例皮下帶狀灰質異位伴癲癇患者的 DCX 基因突變分析. 中華醫學遺傳學雜志, 2013, 30(1): 74-78.
22.	歐陽梅, 李淡芳, 張佩琪, 等. 皮層下帶狀灰質異位的 DCX 和 L6SI 基因檢測. 中國神經精神疾病雜志, 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.	黃誠, 牟君, 黃有為. 老年起病的灰質異位一例. 第三軍醫大學學報, 2010, 32(12): 1315-1320.
33.	王敏, 張旻, 朱遂強, 等. 皮質下帶狀灰質異位致非驚厥持續狀態一例報告. 神經損傷與功能重建, 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.	劉齋, 何麗, 董強強, 等. 腦室旁結節狀灰質異位: 結節的位置與并發其他腦畸形的關系的 MRI 研究. 中國臨床醫學影像雜志, 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.	柴學, 劉文, 肖朝勇, 等. 腦灰質異位磁共振擴散張量成像的定量研究. 中國臨床醫學影像雜志, 2011, 22(3): 153-156.
46.	朱湘文, 張起強, 許強, 等. 室管膜下型灰質異位腦纖維結構連接的 MR 彌散張量成像研究. 中國臨床神經外科雜志, 2012, 17(10): 594-597.
47.	孫吉林, 吳杰, 賈秀川, 等. 磁源性影像在灰質異位癥伴癲癇患者癲癇灶定位中的作用. 中華放射學雜志, 2011, 45(1): 42-45.
48.	張奎, 李勝利, 文華軒, 等. 胎兒腦灰質異位的產前診斷及文獻回顧. 南方醫科大學學報, 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. 劉文鈺, 安冬梅, 周東. 中國西部 70 例室管膜下型灰質異位癥伴癲癇患者的回顧性研究. 癲癇雜志, 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. K?lvi?inen RT, D?rfler 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, 張美品, 侯仲軍, 等. 一例皮下帶狀灰質異位伴癲癇患者的 DCX 基因突變分析. 中華醫學遺傳學雜志, 2013, 30(1): 74-78.
22. 歐陽梅, 李淡芳, 張佩琪, 等. 皮層下帶狀灰質異位的 DCX 和 L6SI 基因檢測. 中國神經精神疾病雜志, 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. 黃誠, 牟君, 黃有為. 老年起病的灰質異位一例. 第三軍醫大學學報, 2010, 32(12): 1315-1320.
33. 王敏, 張旻, 朱遂強, 等. 皮質下帶狀灰質異位致非驚厥持續狀態一例報告. 神經損傷與功能重建, 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. 劉齋, 何麗, 董強強, 等. 腦室旁結節狀灰質異位: 結節的位置與并發其他腦畸形的關系的 MRI 研究. 中國臨床醫學影像雜志, 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. 柴學, 劉文, 肖朝勇, 等. 腦灰質異位磁共振擴散張量成像的定量研究. 中國臨床醫學影像雜志, 2011, 22(3): 153-156.
46. 朱湘文, 張起強, 許強, 等. 室管膜下型灰質異位腦纖維結構連接的 MR 彌散張量成像研究. 中國臨床神經外科雜志, 2012, 17(10): 594-597.
47. 孫吉林, 吳杰, 賈秀川, 等. 磁源性影像在灰質異位癥伴癲癇患者癲癇灶定位中的作用. 中華放射學雜志, 2011, 45(1): 42-45.
48. 張奎, 李勝利, 文華軒, 等. 胎兒腦灰質異位的產前診斷及文獻回顧. 南方醫科大學學報, 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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