Malformations of cortical development and epilepsy: a cohort of 150 patients in western China_Journal of Epilepsy

Authors：

 LIUWenyu , ANDongmei , HAONanya ,  ZHOUDong

Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

Keywords：

Malformations of cortical development; MRI; Epilepsy

DOI：

10.7507/2096-0247.20160003

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Objective Malformations of cortical development (MCDs) are increasingly identified as important etiology for refractory epilepsy. Little is known about the spectrum, distribution and clinical features of MCDs, especially in a resource-limited region. This study investigated the distribution and compared the clinical features and long-term prognosis between simple and multiple forms. Methods Consecutive 150 epilepsy patients with pathologically or radiologically confirmed MCDs were included from a tertiary epilepsy center in western China. Patients were divided into three subtypes according to the scheme of Barkovich, also Simple and Multiple forms based on whether single type of MCDs or other brain developmental abnormalities co-existed. Results The most common type of MCDs is focal cortical dysplasia, and China is still in the early phase of implementing surgical treatments. We found perinatal insults more common in sub-group III patients. Furthermore, 'Multiple' form was identified in 36/150 patients. Patients with heterotopias were more commonly associated with other abnormalities. Conclusion MCDs are critical causes for epilepsy, also a big challenge for resource-limited countries. Imaging techniques are crucial in diagnosing and classifying cortical deformities. Multiple malformations lead to more severe clinical features and worsen the prognosis, helping physicians to seek the best therapeutic option, also assists in classifying MCDs.

Citation： LIUWenyu, ANDongmei, HAONanya, ZHOUDong. Malformations of cortical development and epilepsy: a cohort of 150 patients in western China. Journal of Epilepsy, 2016, 2(1): 14-17. doi: 10.7507/2096-0247.20160003 Copy

1.	Wyllie E, Comair YG, Kotagal P, et al. Epilepsy surgery in infants. Epilepsia, 1996, 37(7): 625-637.
2.	Lortie A, Plouin P, Chiron C, et al. Characteristics of epilepsy in focal cortical dysplasia in infancy. Epilepsy research, 2002, 51(1-2): 133-145.
3.	Sisodiya SM. Malformations of cortical development: burdens and insights from important causes of human epilepsy. The Lancet Neurology, 2004, 3(1): 29-38.
4.	Palmini A. Revising the classification of focal cortical dysplasias. Epilepsia, 2011, 52(1): 188-190.
5.	Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology, 2005, 65(12): 1873-1887.
6.	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.
7.	Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. The Lancet Neurology, 2014, 13(7): 710-726.
8.	Dubeau F, Tampieri D, Lee N, et al. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain, 1995, 118(5): 1273-1287.
9.	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. Journal of Neurology, Neurosurgery and Psychiatry, 2004, 75(6): 873-878.
10.	Wieck G, Leventer RJ, Squier WM, et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain, 2005, 128(12): 2811-2821.
11.	Consalvo DE, Kochen SS, Alurralde A, et al. Periventricular nodular and subcortical neuronal heterotopia in adult epileptic patients. Medicina, 2006, 66(2): 101-107.
12.	Leventer RJ, Jansen A, Pilz DT, et al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain, 2010, 133(5): 1415-1427.
13.	Hetts SW, Sherr EH, Chao S, et al. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. American Journal of Roentgenology, 2006, 187(5): 1343-1348.
14.	Pisano T, Barkovich AJ, Leventer RJ, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology, 2012, 79(12): 1244-1251.
15.	Kuchukhidze G, Koppelstaetter F, Unterberger I, et al. Hippocampal abnormalities in malformations of cortical development: MRI study. Neurology, 2010, 74(20): 1575-1582.
16.	Mandelstam SA, Leventer RJ, Sandow A, et al. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. American Journal of Neuroradiology, 2013, 34(2): 432-438.
17.	Jissendi-Tchofo P, Kara S, Barkovich AJ. Midbrain-hindbrain involvement in lissencephalies. Neurology, 2009, 72(5): 410-418.
18.	Kuchukhidze G, Koppelstaetter F, Unterberger I, et al. Midbrain-hindbrain malformations in patients with malformations of cortical development and epilepsy: a series of 220 patients. Epilepsy Research, 2013, 106(1-2): 181-190.
19.	Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia, 1989, 30(4): 389-399.
20.	Blumcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by the Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(1): 158-174.
21.	Abdel Razek AA, Kandell AY, Elsorogy LG, et al. Disorders of cortical formation: MR imaging features. American Journal of Neuroradiology, 2009, 30(5): 4-11.

1. Wyllie E, Comair YG, Kotagal P, et al. Epilepsy surgery in infants. Epilepsia, 1996, 37(7): 625-637.
2. Lortie A, Plouin P, Chiron C, et al. Characteristics of epilepsy in focal cortical dysplasia in infancy. Epilepsy research, 2002, 51(1-2): 133-145.
3. Sisodiya SM. Malformations of cortical development: burdens and insights from important causes of human epilepsy. The Lancet Neurology, 2004, 3(1): 29-38.
4. Palmini A. Revising the classification of focal cortical dysplasias. Epilepsia, 2011, 52(1): 188-190.
5. Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology, 2005, 65(12): 1873-1887.
6. 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.
7. Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. The Lancet Neurology, 2014, 13(7): 710-726.
8. Dubeau F, Tampieri D, Lee N, et al. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain, 1995, 118(5): 1273-1287.
9. 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. Journal of Neurology, Neurosurgery and Psychiatry, 2004, 75(6): 873-878.
10. Wieck G, Leventer RJ, Squier WM, et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain, 2005, 128(12): 2811-2821.
11. Consalvo DE, Kochen SS, Alurralde A, et al. Periventricular nodular and subcortical neuronal heterotopia in adult epileptic patients. Medicina, 2006, 66(2): 101-107.
12. Leventer RJ, Jansen A, Pilz DT, et al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain, 2010, 133(5): 1415-1427.
13. Hetts SW, Sherr EH, Chao S, et al. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. American Journal of Roentgenology, 2006, 187(5): 1343-1348.
14. Pisano T, Barkovich AJ, Leventer RJ, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology, 2012, 79(12): 1244-1251.
15. Kuchukhidze G, Koppelstaetter F, Unterberger I, et al. Hippocampal abnormalities in malformations of cortical development: MRI study. Neurology, 2010, 74(20): 1575-1582.
16. Mandelstam SA, Leventer RJ, Sandow A, et al. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. American Journal of Neuroradiology, 2013, 34(2): 432-438.
17. Jissendi-Tchofo P, Kara S, Barkovich AJ. Midbrain-hindbrain involvement in lissencephalies. Neurology, 2009, 72(5): 410-418.
18. Kuchukhidze G, Koppelstaetter F, Unterberger I, et al. Midbrain-hindbrain malformations in patients with malformations of cortical development and epilepsy: a series of 220 patients. Epilepsy Research, 2013, 106(1-2): 181-190.
19. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia, 1989, 30(4): 389-399.
20. Blumcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by the Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(1): 158-174.
21. Abdel Razek AA, Kandell AY, Elsorogy LG, et al. Disorders of cortical formation: MR imaging features. American Journal of Neuroradiology, 2009, 30(5): 4-11.

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