局灶性皮层发育不良的临床病理分类新标准—ILAE 诊断方法委员会协作组专家共识_Journal of Epilepsy

Authors：

 IngmarBlümcke , MariaThom , EleonoraAronica , 李劲梅　译 , 慕洁　审

Corresponding author：

Keywords：

癫痫; 局灶性皮层发育不良; 诊断; 分类; 新标准

DOI：

10.7507/2096-0247.20200088

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局灶性皮层发育不良（Focal cortical dysplasia，FCD）是常与癫痫相关的大脑局灶性皮层构层异常疾病，儿童和成人均可患病。最近，ILAE 专项工作小组就 FCD 的分类新标准达成共识以更好地诠释其临床病理特征。32 名专家重新评价现存癫痫数据库中 FCD 患者的临床电生理表现、影像学数据、手术切除标本的神经病理表现及术后预后。专项工作小组就 FCD 分类提出 3 个亚型。FCDⅠ 型指皮层神经元构层异常的单发病灶，可以是串珠样小神经元垂直分布异常（FCDⅠa 型）或水平层次横贯性丢失（FCDⅠb 型），累及单一或多个脑叶。FCDⅡ型除特征性皮层神经元构层异常之外，还出现异形神经元（FCDⅡa 型）并发现气球样细胞（FCDⅡb 型）。相对于旧分类标准，新分类标准最大的变动是引入 FCDⅢ型：FCD 合并海马硬化（FCDⅢa 型），FCD 合并与癫痫相关的肿瘤（FCDⅢb 型），FCD 合并血管畸形（FCDⅢc 型），FCD 合并其他早期发生的外伤、卒中或脑炎所遗留的病灶（FCDⅢd 型）。新分类标准将为 FCD 患者临床、影像、电生理特征、术后癫痫控制及其分子病理机制研究提供重要依据。

Citation： IngmarBlümcke, MariaThom, EleonoraAronica, 李劲梅　译, 慕洁　审. 局灶性皮层发育不良的临床病理分类新标准—ILAE 诊断方法委员会协作组专家共识. Journal of Epilepsy, 2020, 6(6): 537-545. doi: 10.7507/2096-0247.20200088 Copy

1.	Taylor DC, Falconer MA, Bruton CJ, et al. Focaldysplasiaofthe cerebralcortex in epilepsy. J Neurol Neurosurg Psychiatry, 1971, 34(4): 369-387.
2.	Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(6 Supp13): 2-8.
3.	Tassi L, Colombo N, Garbelli R, et al. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain, 2002, 125(Pt8): 1719-1732.
4.	Tassi L, Garbelli R, Colombo N, et al. TypeI focal cortical dysplasia: surgical outcome is related to histopathology. Epileptic Disord, 2010, 12(3): 181-191.
5.	Gambardella A, Palmini A, Andermann F, et al. Usefulness of focal rhythmic discharges on scalp EEG of patients with focal cortical dysplasia and intractable epilepsy. Electroencephalogr Clin Neurophysiol, 1996, 98(4): 243-249.
6.	Palmini A, Gambardella A, Andermann F, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol, 1995, 37(4): 476-487.
7.	Chassoux F, Devaux B, Landre E, et al. Stereoelectroencephalography in focal cortical dysplasia: a 3D approach to delineating the dysplastic cortex. Brain, 2000, 123(Pt 8): 1733-1751.
8.	Chamberlain A, Cohen ML, Gyure KA, et al. Interobserver and intraob server reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia, 2009, 50(12): 2593-2598.
9.	Barkovich AJ, Kuzniecky RI, Jackson GD, et al. Adevelopmental and genetic classification formal formations of cortical development. Neurology, 2005, 65(12): 1873-1887.
10.	Lerner JT, Salamon N, Hauptman JS, et al. Assessment and surgical outcomes for mild type I and severe type Ⅱ cortical dysplasia: acritical review and the UCLA experience. Epilepsia, 2009, 50(6): 1310-1335.
11.	Barkovich AJ, Kjos BO, Jackson DE, et al. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology, 1988, 166(1 Pt1): 173-180.
12.	Krsek P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol, 2008, 63(6): 758-769.
13.	Hildebrandt M, Pieper T, Inkler P, et al. Neuropathological spectrum of cortical dysplasia in children with severe focal epilepsies. Acta Neuropathol, 2005, 110(l): l-11.
14.	Rakic P, Lombroso PJ. Development of the cerebral cortex: I. Forming the cortical structure. J Am Acad Child Adolesc Psychiatry, 1998, 37(l): ll6-ll7.
15.	Ding SL, Van Hoesen G, CassellMD, et al. Parcel lation of human temporal polar cortex: a combined analysis of multiple cytoarchitectonic, chemoarchitectonic, and pathological markers. J Comp Neurol, 2009, 5l4(6): 595-623.
16.	Blumcke I, Pieper T, Pauli E, et al. A distinct variant of focal cortical dysplasia type I characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies. Epileptic Disord, $ref.ref_year, 12(3): l72-l80.
17.	Salamon N, Kung J, Shaw SJ, et al. FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy. Neurology, 2008, 7l(20): l594-l60l.
18.	Andres M, Andre VM, Nguyen S, et al. Human cortical dysplasia and epilepsy: an ontogenetic hypothesis based on volumetric MRI and Neu Nneuronaldensity and sizemeasurements. Cereb Cortex, 2005, l5(2): l94-2l0.
19.	Chandra PS, Salamon N, Nguyen ST, et al. Infantile spasm-associated microencephaly in tuberous sclerosis complexand cortical dysplasia. Neurology, 2007, 68(6): 438-445.
20.	Crome L. Infantile cerebralgliosis with giant nervecells. J Neurol Neurosurg Psychiatry, l957, 20(2): ll7-l24.
21.	Fauser S, Sisodiya SM, Martinian L, et al. Multi-focal occurrence of cortical dysplasia in epilepsy patients. Brain, 2009, l32(Pt8): 2079-2090.
22.	Sisodiya SM, Fauser S, Cross JH, et al. Focal cortical dysplasia type Ⅱ: biological features and clinical perspectives. Lancet Neurol, 2009, 8(9): 830-843.
23.	Garbelli R, Munari C, DeBiasi S, et al. Taylor, scortical dysplasia: a confocal and ultrastructural immunohistochemical study. Brain Pathol, l999, 9(3): 445-46l.
24.	Urbach H, Scheffler B, Heinrichsmeier T, et al. Focal cortical dysplasia of Taylor, sballoon celltype: a clinicopathologicalentity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome. Epilepsia, 2002, 43(l): 33-40.
25.	Talos DM, Kwiatkowski DJ, Cordero K, et al. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol, 2008, 63(4): 454-465.
26.	Martinian L, Boer K, Middeldorp J, et al. Expression patterns of glial fibrillaryacidic protein (GFAP)-deltain epilepsy-associated lesional pathologies. Neuropathol Appl Neurobiol, 2009, 35(4): 394-405.
27.	Fauser S, Becker A, Schulze-Bonhage A, et al. CD34- immunoreactive balloon cells in cortical malformations. Acta Neuropathol, 2004, l08(4): 272-278.
28.	Yasin SA, Latak K, Becherini F, et al. Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell. Acta Neuropathol, $ref.ref_year, l20(l): 85-96.
29.	Hyman MH, hittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol, 2000, 57(5): 662-665.
30.	FauserS, Schulze-Bonhage A. Epileptogenicity of cortical dysplasia in temporal lobe dual pathology: an electrophysiological study with invasive recordings. Brain, 2006, l29(Ptl): 82-95.
31.	Krsek P, Pieper T, Karlmeier A, et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or Ⅱ. Epilepsia, 2009, 50(l): l25-l37.
32.	Nobili L, Cardinale F, Magliola U, et al. Taylor’s focal cortical dysplasia increases the risk of sleep-related epilepsy. Epilepsia, 2009, 50(l2): 2599-2604.
33.	Colombo N, Salamon N, Raybaud C, et al. Imaging of malformations of cortical development. Epileptic Disord, 2009, ll(3): l94-205.
34.	Barkovich AJ, Kuzniecky RI, Bollen A, et al. Focal transmantle dysplasia:a specific malformation of cortical development. Neurology, l997, 49(4): ll48-ll52.
35.	Garbelli R, Meroni A, Magnaghi G, et al. Architectural(Type IA) focal cortical dysplasia and parvalbum in immunostaining in temporal lobe epilepsy. Epilepsia, 2006, 47(6): l074-l078.
36.	Thom M, Eriksson S, Martinian L, et al. Temporal lobe sclerosis associated with hippocampal sclerosisin temporal lobe epilepsy: neuropathological features. J Neuropathol Exp Neurol, 2009, 68(8): 928-938.
37.	Meroni A, Galli C, Bramerio M, et al. Nodularheterotopia: a neuropathological study of 24 patients undergoing surgery for drug- resistant epilepsy. Epilepsia, 2009, 50(l): ll6-l24.
38.	Blumcke I, Vinters HV, Armstrong D, et al. Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia. Epileptic Disord, 2009, ll(3): l8l-l93.
39.	Ferrier CH, Aronica E, Leijten FS, et al. Electrocorticography discharge patterns in patients with a cavernoushemangioma and pharmacoresistent epilepsy. J Neurosurg, 2007, l07(3): 495-503.
40.	Lombroso CT. Can early postnatal closed head injury induce cortical dysplasia. Epilepsia, 2000, 4l(2): 245-253.
41.	Marin-Padilla M, Parisi JE, Armstrong DL, et al. Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy. Acta Neuropathol, 2002, l03(4): 32l-332.
42.	Maillard L, Vignal JP, Gavaret M, et al. Semiologic and electrophysiologic correlations in temporal lobe seizure subtypes. Epilepsia, 2004, 45(l2): l590-l599.
43.	Chabardes S, Kahane P, Minotti L, et al. The temporopolar cortex plays a pivotal role in temporal lobe seizures. Brain, 2005, l28(Pt 8): l8l8-l83l.
44.	Fauser S, Huppertz HJ, Bast T, et al. Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in aseries of l20 patients. Brain, 2006, l29(Pt7): l907-l9l6.
45.	Spreafico R, Blumcke I. Focal cortical dysplasias: clinical implication of neuropathological classification systems. Acta Neuropathol, 20l0, l20(3): 359-367.
46.	Marusic P, Tomasek M, Krsek P, et al. Clinical characteristics in patients with hippocampal sclerosis with or without cortical dysplasia. Epileptic Disord, 2007, 9(Suppll): 75-82.
47.	Hart YM, Andermann F, Robitaille Y, et al. Double pathology in Rasmussen’s syndrome: a window on the etiology? Neurology, l998, 50(3): 73l-735.
48.	Kremer S, De Saint Martin A, Minotti L, et al. Focal cortical dysplasia possibly related to aprobable prenatalis chemic injury. J Neuroradiol, 2002, 29(3): 200-203.

1. Taylor DC, Falconer MA, Bruton CJ, et al. Focaldysplasiaofthe cerebralcortex in epilepsy. J Neurol Neurosurg Psychiatry, 1971, 34(4): 369-387.
2. Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(6 Supp13): 2-8.
3. Tassi L, Colombo N, Garbelli R, et al. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain, 2002, 125(Pt8): 1719-1732.
4. Tassi L, Garbelli R, Colombo N, et al. TypeI focal cortical dysplasia: surgical outcome is related to histopathology. Epileptic Disord, 2010, 12(3): 181-191.
5. Gambardella A, Palmini A, Andermann F, et al. Usefulness of focal rhythmic discharges on scalp EEG of patients with focal cortical dysplasia and intractable epilepsy. Electroencephalogr Clin Neurophysiol, 1996, 98(4): 243-249.
6. Palmini A, Gambardella A, Andermann F, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol, 1995, 37(4): 476-487.
7. Chassoux F, Devaux B, Landre E, et al. Stereoelectroencephalography in focal cortical dysplasia: a 3D approach to delineating the dysplastic cortex. Brain, 2000, 123(Pt 8): 1733-1751.
8. Chamberlain A, Cohen ML, Gyure KA, et al. Interobserver and intraob server reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia, 2009, 50(12): 2593-2598.
9. Barkovich AJ, Kuzniecky RI, Jackson GD, et al. Adevelopmental and genetic classification formal formations of cortical development. Neurology, 2005, 65(12): 1873-1887.
10. Lerner JT, Salamon N, Hauptman JS, et al. Assessment and surgical outcomes for mild type I and severe type Ⅱ cortical dysplasia: acritical review and the UCLA experience. Epilepsia, 2009, 50(6): 1310-1335.
11. Barkovich AJ, Kjos BO, Jackson DE, et al. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology, 1988, 166(1 Pt1): 173-180.
12. Krsek P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol, 2008, 63(6): 758-769.
13. Hildebrandt M, Pieper T, Inkler P, et al. Neuropathological spectrum of cortical dysplasia in children with severe focal epilepsies. Acta Neuropathol, 2005, 110(l): l-11.
14. Rakic P, Lombroso PJ. Development of the cerebral cortex: I. Forming the cortical structure. J Am Acad Child Adolesc Psychiatry, 1998, 37(l): ll6-ll7.
15. Ding SL, Van Hoesen G, CassellMD, et al. Parcel lation of human temporal polar cortex: a combined analysis of multiple cytoarchitectonic, chemoarchitectonic, and pathological markers. J Comp Neurol, 2009, 5l4(6): 595-623.
16. Blumcke I, Pieper T, Pauli E, et al. A distinct variant of focal cortical dysplasia type I characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies. Epileptic Disord, $ref.ref_year, 12(3): l72-l80.
17. Salamon N, Kung J, Shaw SJ, et al. FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy. Neurology, 2008, 7l(20): l594-l60l.
18. Andres M, Andre VM, Nguyen S, et al. Human cortical dysplasia and epilepsy: an ontogenetic hypothesis based on volumetric MRI and Neu Nneuronaldensity and sizemeasurements. Cereb Cortex, 2005, l5(2): l94-2l0.
19. Chandra PS, Salamon N, Nguyen ST, et al. Infantile spasm-associated microencephaly in tuberous sclerosis complexand cortical dysplasia. Neurology, 2007, 68(6): 438-445.
20. Crome L. Infantile cerebralgliosis with giant nervecells. J Neurol Neurosurg Psychiatry, l957, 20(2): ll7-l24.
21. Fauser S, Sisodiya SM, Martinian L, et al. Multi-focal occurrence of cortical dysplasia in epilepsy patients. Brain, 2009, l32(Pt8): 2079-2090.
22. Sisodiya SM, Fauser S, Cross JH, et al. Focal cortical dysplasia type Ⅱ: biological features and clinical perspectives. Lancet Neurol, 2009, 8(9): 830-843.
23. Garbelli R, Munari C, DeBiasi S, et al. Taylor, scortical dysplasia: a confocal and ultrastructural immunohistochemical study. Brain Pathol, l999, 9(3): 445-46l.
24. Urbach H, Scheffler B, Heinrichsmeier T, et al. Focal cortical dysplasia of Taylor, sballoon celltype: a clinicopathologicalentity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome. Epilepsia, 2002, 43(l): 33-40.
25. Talos DM, Kwiatkowski DJ, Cordero K, et al. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol, 2008, 63(4): 454-465.
26. Martinian L, Boer K, Middeldorp J, et al. Expression patterns of glial fibrillaryacidic protein (GFAP)-deltain epilepsy-associated lesional pathologies. Neuropathol Appl Neurobiol, 2009, 35(4): 394-405.
27. Fauser S, Becker A, Schulze-Bonhage A, et al. CD34- immunoreactive balloon cells in cortical malformations. Acta Neuropathol, 2004, l08(4): 272-278.
28. Yasin SA, Latak K, Becherini F, et al. Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell. Acta Neuropathol, $ref.ref_year, l20(l): 85-96.
29. Hyman MH, hittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol, 2000, 57(5): 662-665.
30. FauserS, Schulze-Bonhage A. Epileptogenicity of cortical dysplasia in temporal lobe dual pathology: an electrophysiological study with invasive recordings. Brain, 2006, l29(Ptl): 82-95.
31. Krsek P, Pieper T, Karlmeier A, et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or Ⅱ. Epilepsia, 2009, 50(l): l25-l37.
32. Nobili L, Cardinale F, Magliola U, et al. Taylor’s focal cortical dysplasia increases the risk of sleep-related epilepsy. Epilepsia, 2009, 50(l2): 2599-2604.
33. Colombo N, Salamon N, Raybaud C, et al. Imaging of malformations of cortical development. Epileptic Disord, 2009, ll(3): l94-205.
34. Barkovich AJ, Kuzniecky RI, Bollen A, et al. Focal transmantle dysplasia:a specific malformation of cortical development. Neurology, l997, 49(4): ll48-ll52.
35. Garbelli R, Meroni A, Magnaghi G, et al. Architectural(Type IA) focal cortical dysplasia and parvalbum in immunostaining in temporal lobe epilepsy. Epilepsia, 2006, 47(6): l074-l078.
36. Thom M, Eriksson S, Martinian L, et al. Temporal lobe sclerosis associated with hippocampal sclerosisin temporal lobe epilepsy: neuropathological features. J Neuropathol Exp Neurol, 2009, 68(8): 928-938.
37. Meroni A, Galli C, Bramerio M, et al. Nodularheterotopia: a neuropathological study of 24 patients undergoing surgery for drug- resistant epilepsy. Epilepsia, 2009, 50(l): ll6-l24.
38. Blumcke I, Vinters HV, Armstrong D, et al. Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia. Epileptic Disord, 2009, ll(3): l8l-l93.
39. Ferrier CH, Aronica E, Leijten FS, et al. Electrocorticography discharge patterns in patients with a cavernoushemangioma and pharmacoresistent epilepsy. J Neurosurg, 2007, l07(3): 495-503.
40. Lombroso CT. Can early postnatal closed head injury induce cortical dysplasia. Epilepsia, 2000, 4l(2): 245-253.
41. Marin-Padilla M, Parisi JE, Armstrong DL, et al. Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy. Acta Neuropathol, 2002, l03(4): 32l-332.
42. Maillard L, Vignal JP, Gavaret M, et al. Semiologic and electrophysiologic correlations in temporal lobe seizure subtypes. Epilepsia, 2004, 45(l2): l590-l599.
43. Chabardes S, Kahane P, Minotti L, et al. The temporopolar cortex plays a pivotal role in temporal lobe seizures. Brain, 2005, l28(Pt 8): l8l8-l83l.
44. Fauser S, Huppertz HJ, Bast T, et al. Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in aseries of l20 patients. Brain, 2006, l29(Pt7): l907-l9l6.
45. Spreafico R, Blumcke I. Focal cortical dysplasias: clinical implication of neuropathological classification systems. Acta Neuropathol, 20l0, l20(3): 359-367.
46. Marusic P, Tomasek M, Krsek P, et al. Clinical characteristics in patients with hippocampal sclerosis with or without cortical dysplasia. Epileptic Disord, 2007, 9(Suppll): 75-82.
47. Hart YM, Andermann F, Robitaille Y, et al. Double pathology in Rasmussen’s syndrome: a window on the etiology? Neurology, l998, 50(3): 73l-735.
48. Kremer S, De Saint Martin A, Minotti L, et al. Focal cortical dysplasia possibly related to aprobable prenatalis chemic injury. J Neuroradiol, 2002, 29(3): 200-203.

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局灶性皮层发育不良的临床病理分类新标准—ILAE 诊断方法委员会协作组专家共识

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