限局性皮质发育障碍分型、诊断和治疗_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: wangww@medmail.com.cn

Keywords：

限局性皮质发育障碍; 分型; 癫痫; 磁共振成像; 脑电图

DOI：

10.7507/2096-0247.20160044

Video：

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Abstract Full text Figures/Tables Video References Cited by

限局性皮质发育障碍(Focal cortical dysplasia, FCD), 特点为神经元迁移、增殖及分化异常, 导致的皮质分层异常及出现异常神经元、气球细胞。FCD发作机制与多种因素有关, 哺乳动物mTOR异常是FCD结构和电生理异常的基础, 病毒、基因、影响神经元后期迁移的脑损伤均可引起FCD。FCD易于产生癫痫样发放并扩布至临近部位甚至远隔部位。国际抗癫痫联盟(ILAE)基于组织学并结合临床以及神经影像学将FCD分为:FCDⅠ型(FCDⅠa型、FCDⅠb型、FCDⅠc型)、FCDⅡ型(FCDⅡa型、FCDⅡb型)、FCDⅢ型(FCDⅢa型、FCDⅢb型、FCDⅢc型、FCDⅢd型)。癫痫发作是FCD最常见的症状, 并且发作类型仅与病变部位有关。FCD患者40%~70%有限局性发作及发作间期脑电图异常。颅内电极可记录到持续癫痫样发放, 分为三型:①募集型; ②反复暴发型; ③持续性或节律性棘波＞10 s。磁光振成像(MRI)为发现FCD最重要的手段, 但区分不同亚型有一定困难。MRI后处理技术如VBM、曲线重组形态分析程序等可以明显提高发现率。MRI主要异常为灰白质交界处模糊、皮质增厚、皮质信号异常、皮质下白质信号异常、穿透现象、沟底发育障碍及脑回脑沟异常。抗癫痫药治疗效果不佳, 外科治疗可使60%左右的患者发作消失

Citation： 邓馨, 王薇薇, 吴逊. 限局性皮质发育障碍分型、诊断和治疗. Journal of Epilepsy, 2016, 2(3): 234-241. doi: 10.7507/2096-0247.20160044 Copy

1.	Gaitanis JN, Donahue J. Focal cortical dysplasia. Pediatric Neurology, 2013, 49(11):79-87.
2.	Wang DD, Deans AE, Barkovich AJ, et al. Transmantle sign in focal cortical dysplasia:A unique radiological entity with excellent prognosis for seizure control. J Neurosurg, 2013, 118(20):337-344.
3.	Marin-Valencia I, Guerrini R, Glesson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia, 2014, 55(2):970-978.
4.	Barkovich AJ, Kuzniecky RI, Bollen AW, et al. Focal transmantle dysplasia:a specific malformation of cortical development. Neurology, 1997, 49(6):1148-1152.
5.	Colombo N, Tassi L, Deleo F, et al. Focal cortical dysplasia typeⅡa andⅡb:MRI aspects in 118 cases proven by histopathology. Neuroradiology, 2012, 54(7):1065-1077.
6.	Blumcke I, Thom M, Aronica E, et al. The clinico-pathological spetrum of focal cortical dysplasia:a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(5):158-174.
7.	Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(Suppl 3):52-58.
8.	Alonso-Nanclares L, Garhelli R, Sola RG, et al. Microanatomy of the dysplastic neocortex from epileptic patients. Brain, 2005, 128(6):158-173.
9.	Tassi L, Garhelli R, Colombo N, et al. TypeⅠfocal cortical dysplasia:surgical outcome is related to histopathology. Epileptic Disord, 2010, 12(8):181-191.
10.	Kresk P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol, 2008, 63(8):758-769.
11.	Chassoux F, Rodrigo S, Semah F, et al. FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasia. Neurology, 2010, 75(8):2168-2175.
12.	Guerrini R, Duchowny M, Jayakar D, et al. Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia, 2015, 56(11):1669-1686.
13.	Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol, 2015, 77(8):675-683.
14.	Barba C, Parrini E, Coras R, et al. Co-occurring malformation of cortical development and SCN1A gene mutations. Epilepsia, 2014, 55(13):1009-1019.
15.	Palmini A, Luders HO. Classification issues in malformations caused by abnormalities of cortical development. Neurosurg Clin North America, 2002, 37(6):1-16.
16.	Blumcke I, Spreafico R. An international consensus classification for focal cortical dysplasia. Lancet Neurol, 2011, 10(2):26-27.
17.	Palmini A, Paglioli, Silva VD. Development tumors and adjacent cortical dysplasia:Single or dual pathology?. Epilepsia, 2013, 54(Suppl 9):18-24.
18.	Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development:update 2012. Brain, 2012, 135(5):1348-1369.
19.	Fauser S, Essang C, Altenmuller DM, et al. Is there evidence for clinical differences related to the new classification of temporal lobe cortical dysplasia?. Epilepsia, 2013, 54(12):909-917.
20.	Chassoux F, Landre E, Mellerio C, et al. TypeⅡfocal cortical dysplasia:Electroclinical phenotype and surgical outcome related to imaging. Epilepsia, 2012, 53(8):349-358.
21.	Perucca P, Dubeau F, Gotman J. Intracranial electroencephalographic seizure-onset patterns:effect of underlying pathology. Brain, 2014, 137(8):183-196.
22.	Schwartzkroin PA, Wenzel HJ. Are developmental dysplastic lesions epileptogenic?. Epilepsia, 2012, 53(Suppl 1):35-44.
23.	Widdess-Walsh P, Jeha L, Nair D, et al. Subdural electrode analysis in focal cortical dysplasia:predictors of surgical outcome. Neurology, 2007, 69(9):660-667.
24.	Rikir E, Koessler L, Gavaret M, et al. Electrical source imaging in cortical malformation-related epilepsy:A prospective EEG-SEEG concordance study. Epilepsia, 2014, 55(8):918-932.
25.	Wagner J, Weber B, Urbach H, et al. Morphometric MRI analysis improves detection of focal cortical dysplasia type. Brain, 2011, 134(8):2844-2854.
26.	Bonilha L, Montenegro MA, Rorden C, et al. Voxel-based morphometry reveals excess gray matter concentration in patients with focal cortical dysplasia. Epilepsia, 2006, 47(7):908-915.
27.	Mellerio C, Labeyrie MA, Chassoux F, et al. Optimizing MR imaging detection of Type 2 focal cortical dysplasia:Best criteria for clinical practice. Am J Neruoradial, 2012, 33(8):1932-1938.
28.	Mellerio C, Labeyrie MA, Chassoux F, et al. 3T MRI improves the detection of transmantle sign in type 2 focal cortical dyplasia. Epilepsia, 2014, 55(8):117-122.
29.	Hofman PA, Fitt GJ, Harvey AS, et al. Bottom of sulcus dysplasia:Imaging Feature. AJR, 2011, 196(5):881-885.
30.	Blumcke I, Muhlebner A. Neuropathological work-up of focal cortical dysplasia using the new ILAE consensus classification system-practical guideline article invited by the Euro-CNS research committe. Clin Neuropathology, 2011, 30(8):164-177.
31.	Kim YH, Kang HC, Kim DS, et al. Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery. Epilepsia, 2011, 52(11):722-727.
32.	Kim DW, Kim S, Park SH, et al. Comparsion of MRI feature and surgical outcome among the subtypes of focal cortical dysplesia. Seizure, 2012, 2(6):789-794.
33.	Campos BM, Coan AC, Beltramini GC, et al. White matter abnormalities associate with type and localization of focal epileptogenic lesions. Epilepsia, 2015, 56(8):125-132.
34.	Shepherd C, Liu J, Goc J, et al. A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type. Epilepsia, 2013, 54(11):898-908.
35.	Pittau F, Dubeau F, Gotman J. Contribution of EEG/fMRI to the definition of the epileptic focus. Neurology, 2012, 78(2):1479-1487.
36.	Kerber K, Le Van P, Dumpelmann M, et al. High frequency oscillations disease activity in patients with focal cortical dysplasia. Epilepsia, 2013, 54(5):1428-1436.
37.	Mu J, Rampp S, Carrette E, et al. Clinical relevance of source location in frontal lobe epilepsy and prediction of postoperative long-term outcome. Seizure, 2014, 23(7):553-559.
38.	Costagli M, Kelley DA, Symms MR, et al. Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla. Neuroradiology, 2014, 56(12):517-523.
39.	Salamon N, Kung J, Shaw SJ, et al. FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy. Neurology, 2008, 71(8):1594-1601.
40.	Andre VM, Cepeda C, Vinters HV, et al. Pyramidal cell responses to gamma-aminobutyric acid differ in typea nd typeⅡcortical dysplasia. J Neurosci Res, 2008, 86(11):3151-3162.
41.	Lim JS, Kim WI, Kang HC, et al. Brain somatic mutations in MTOR cause focal cortical dysplasia type leading to intractable epilepsy. Nat Med, 2015, 21(10):395-400.
42.	Jung DE, Kang HC, Kim HD. Long-term outcome of the ketogenic diet for intractable childhood epilepsy with focal malformation of cortical development. Pediatrics, 2008, 122(8):e330-e333.
43.	龙娓微, 蒋莉, 廖建湘.生酮饮食治疗后结节性硬化症合并癫痫的疗效及安全性, 癫痫杂志, 2015, 1(2):118-122.
44.	Jayakar P, Gaillard WD, Tripathi M, et al. Diagnostic test utilization in evaluation for resective epilepsy surgery in children. Recommendations on behalf of the task force for paediatric epilepsy surgery and the diagnostic commission of ILAE. Epilepsia, 2014, 55(3):507-518.
45.	孙恒, 冯兆海, 姜磊, 等.局灶性皮质发育不良致难治性癫痫手术预后影响因素分析.中国神经精神疾病杂志, 2014, 40(11):513-516.
46.	单永治, 赵国光, 徐超堃, 等.脑皮质发育不良继发顽固性癫痫的病理分型及手术治疗.中华神经外科杂志, 2010, 26(7):206-208.
47.	徐波涛, 漆松寿, 王洪筱, 等.药物难治性癫痫相关局灶性脑皮质发育不良(附21例报告).中国神经精神疾病杂志, 2013, 38(5):269-273.
48.	林元相, 林堃, 康佳智, 等.局灶性皮质发育不良相关难治性癫痫的手术预后及相关影响分析.中华医学杂志, 2012, 92(11):1763-1766.
49.	Fauser S, Essang C, Altenmuller DM, et al. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia, 2015, 56(8):66-76.

1. Gaitanis JN, Donahue J. Focal cortical dysplasia. Pediatric Neurology, 2013, 49(11):79-87.
2. Wang DD, Deans AE, Barkovich AJ, et al. Transmantle sign in focal cortical dysplasia:A unique radiological entity with excellent prognosis for seizure control. J Neurosurg, 2013, 118(20):337-344.
3. Marin-Valencia I, Guerrini R, Glesson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia, 2014, 55(2):970-978.
4. Barkovich AJ, Kuzniecky RI, Bollen AW, et al. Focal transmantle dysplasia:a specific malformation of cortical development. Neurology, 1997, 49(6):1148-1152.
5. Colombo N, Tassi L, Deleo F, et al. Focal cortical dysplasia typeⅡa andⅡb:MRI aspects in 118 cases proven by histopathology. Neuroradiology, 2012, 54(7):1065-1077.
6. Blumcke I, Thom M, Aronica E, et al. The clinico-pathological spetrum of focal cortical dysplasia:a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(5):158-174.
7. Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(Suppl 3):52-58.
8. Alonso-Nanclares L, Garhelli R, Sola RG, et al. Microanatomy of the dysplastic neocortex from epileptic patients. Brain, 2005, 128(6):158-173.
9. Tassi L, Garhelli R, Colombo N, et al. TypeⅠfocal cortical dysplasia:surgical outcome is related to histopathology. Epileptic Disord, 2010, 12(8):181-191.
10. Kresk P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol, 2008, 63(8):758-769.
11. Chassoux F, Rodrigo S, Semah F, et al. FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasia. Neurology, 2010, 75(8):2168-2175.
12. Guerrini R, Duchowny M, Jayakar D, et al. Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia, 2015, 56(11):1669-1686.
13. Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol, 2015, 77(8):675-683.
14. Barba C, Parrini E, Coras R, et al. Co-occurring malformation of cortical development and SCN1A gene mutations. Epilepsia, 2014, 55(13):1009-1019.
15. Palmini A, Luders HO. Classification issues in malformations caused by abnormalities of cortical development. Neurosurg Clin North America, 2002, 37(6):1-16.
16. Blumcke I, Spreafico R. An international consensus classification for focal cortical dysplasia. Lancet Neurol, 2011, 10(2):26-27.
17. Palmini A, Paglioli, Silva VD. Development tumors and adjacent cortical dysplasia:Single or dual pathology?. Epilepsia, 2013, 54(Suppl 9):18-24.
18. Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development:update 2012. Brain, 2012, 135(5):1348-1369.
19. Fauser S, Essang C, Altenmuller DM, et al. Is there evidence for clinical differences related to the new classification of temporal lobe cortical dysplasia?. Epilepsia, 2013, 54(12):909-917.
20. Chassoux F, Landre E, Mellerio C, et al. TypeⅡfocal cortical dysplasia:Electroclinical phenotype and surgical outcome related to imaging. Epilepsia, 2012, 53(8):349-358.
21. Perucca P, Dubeau F, Gotman J. Intracranial electroencephalographic seizure-onset patterns:effect of underlying pathology. Brain, 2014, 137(8):183-196.
22. Schwartzkroin PA, Wenzel HJ. Are developmental dysplastic lesions epileptogenic?. Epilepsia, 2012, 53(Suppl 1):35-44.
23. Widdess-Walsh P, Jeha L, Nair D, et al. Subdural electrode analysis in focal cortical dysplasia:predictors of surgical outcome. Neurology, 2007, 69(9):660-667.
24. Rikir E, Koessler L, Gavaret M, et al. Electrical source imaging in cortical malformation-related epilepsy:A prospective EEG-SEEG concordance study. Epilepsia, 2014, 55(8):918-932.
25. Wagner J, Weber B, Urbach H, et al. Morphometric MRI analysis improves detection of focal cortical dysplasia type. Brain, 2011, 134(8):2844-2854.
26. Bonilha L, Montenegro MA, Rorden C, et al. Voxel-based morphometry reveals excess gray matter concentration in patients with focal cortical dysplasia. Epilepsia, 2006, 47(7):908-915.
27. Mellerio C, Labeyrie MA, Chassoux F, et al. Optimizing MR imaging detection of Type 2 focal cortical dysplasia:Best criteria for clinical practice. Am J Neruoradial, 2012, 33(8):1932-1938.
28. Mellerio C, Labeyrie MA, Chassoux F, et al. 3T MRI improves the detection of transmantle sign in type 2 focal cortical dyplasia. Epilepsia, 2014, 55(8):117-122.
29. Hofman PA, Fitt GJ, Harvey AS, et al. Bottom of sulcus dysplasia:Imaging Feature. AJR, 2011, 196(5):881-885.
30. Blumcke I, Muhlebner A. Neuropathological work-up of focal cortical dysplasia using the new ILAE consensus classification system-practical guideline article invited by the Euro-CNS research committe. Clin Neuropathology, 2011, 30(8):164-177.
31. Kim YH, Kang HC, Kim DS, et al. Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery. Epilepsia, 2011, 52(11):722-727.
32. Kim DW, Kim S, Park SH, et al. Comparsion of MRI feature and surgical outcome among the subtypes of focal cortical dysplesia. Seizure, 2012, 2(6):789-794.
33. Campos BM, Coan AC, Beltramini GC, et al. White matter abnormalities associate with type and localization of focal epileptogenic lesions. Epilepsia, 2015, 56(8):125-132.
34. Shepherd C, Liu J, Goc J, et al. A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type. Epilepsia, 2013, 54(11):898-908.
35. Pittau F, Dubeau F, Gotman J. Contribution of EEG/fMRI to the definition of the epileptic focus. Neurology, 2012, 78(2):1479-1487.
36. Kerber K, Le Van P, Dumpelmann M, et al. High frequency oscillations disease activity in patients with focal cortical dysplasia. Epilepsia, 2013, 54(5):1428-1436.
37. Mu J, Rampp S, Carrette E, et al. Clinical relevance of source location in frontal lobe epilepsy and prediction of postoperative long-term outcome. Seizure, 2014, 23(7):553-559.
38. Costagli M, Kelley DA, Symms MR, et al. Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla. Neuroradiology, 2014, 56(12):517-523.
39. Salamon N, Kung J, Shaw SJ, et al. FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy. Neurology, 2008, 71(8):1594-1601.
40. Andre VM, Cepeda C, Vinters HV, et al. Pyramidal cell responses to gamma-aminobutyric acid differ in typea nd typeⅡcortical dysplasia. J Neurosci Res, 2008, 86(11):3151-3162.
41. Lim JS, Kim WI, Kang HC, et al. Brain somatic mutations in MTOR cause focal cortical dysplasia type leading to intractable epilepsy. Nat Med, 2015, 21(10):395-400.
42. Jung DE, Kang HC, Kim HD. Long-term outcome of the ketogenic diet for intractable childhood epilepsy with focal malformation of cortical development. Pediatrics, 2008, 122(8):e330-e333.
43. 龙娓微, 蒋莉, 廖建湘.生酮饮食治疗后结节性硬化症合并癫痫的疗效及安全性, 癫痫杂志, 2015, 1(2):118-122.
44. Jayakar P, Gaillard WD, Tripathi M, et al. Diagnostic test utilization in evaluation for resective epilepsy surgery in children. Recommendations on behalf of the task force for paediatric epilepsy surgery and the diagnostic commission of ILAE. Epilepsia, 2014, 55(3):507-518.
45. 孙恒, 冯兆海, 姜磊, 等.局灶性皮质发育不良致难治性癫痫手术预后影响因素分析.中国神经精神疾病杂志, 2014, 40(11):513-516.
46. 单永治, 赵国光, 徐超堃, 等.脑皮质发育不良继发顽固性癫痫的病理分型及手术治疗.中华神经外科杂志, 2010, 26(7):206-208.
47. 徐波涛, 漆松寿, 王洪筱, 等.药物难治性癫痫相关局灶性脑皮质发育不良(附21例报告).中国神经精神疾病杂志, 2013, 38(5):269-273.
48. 林元相, 林堃, 康佳智, 等.局灶性皮质发育不良相关难治性癫痫的手术预后及相关影响分析.中华医学杂志, 2012, 92(11):1763-1766.
49. Fauser S, Essang C, Altenmuller DM, et al. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia, 2015, 56(8):66-76.

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