고태성 Table 1. Classification of malformations of cortical development I. Malformations due to abnormal neuronal and glial proflieration A. Generalized

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KISEP Reviews J Korean Epilep Soc 42:94-100, 2000 Therapeutic Strategies in Malformations of Cortical DevelopmentOverview 고태성 Tae Sung Ko, M.D. 94 서 Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea 론 J Korean Epilep Soc Volume 4 December, 2000

고태성 Table 1. Classification of malformations of cortical development I. Malformations due to abnormal neuronal and glial proflieration A. Generalized 1. Proliferation-microlissencephaly B. Focal or multifocal 1. Abnormal proliferation abnormal cell types a. Nonneoplastic 1 Tuberous sclerosis complex 2 Focal cortical dysplasia with balloon cell 3 Hemimegalencephaly b. Neoplastic 1 DNET 2 Ganglioglioma 3 Gangliocytoma II. Malformations due to abnormal neuronal migration A. Generalized 1. Classical type 1 lissencephaly agyria-pachygyria spectrum 2. Cobblestone type 2 lissencephaly 3. Lissencephaly-not otherwise classified 4. Heterotopia-subependymal SE, subcortical SC B. Focal or multifocal 1. Focal agyria/pachygyria partial lissencephaly 2. Focal or multifocal heterotopia-se, SC 3. Focal or multifocal heterotopia with organizational abnormality of the cortex-se, SC 4. Excessive single ectopic white matter neurons III. Malformations due to abnormal cortical organization A. Generalized 1. Polymicrogyria PMG B. Focal or multifocal 1. Polymicrogyria/schizencephaly 2. Focal or mutifocal cortical dysplasia without balloon cells 3. Microdysgenesis IV. Malformations of cortical development, not otherwise classified Adapted from Barkovich AJ 2000. 2) 1. Epilepsy 임상증상별치료 1) Drugs J Korean Epilep Soc Volume 4 December, 2000 95

대뇌피질발달기형의치료 2) Surgery 96 J Korean Epilep Soc Volume 4 December, 2000

고태성 3) Alternative therapy 2. Genetic counseling about syndromes J Korean Epilep Soc Volume 4 December, 2000 97

대뇌피질발달기형의치료 Table 2. Syndromes associated with malformations of cortical development 1. Lissencephalic Miller-Dieker syndrome Walker-Warburg syndrome Fukuyama congenital muscular dystrophy Myotonic dystrophy 2. Nonlissencephalic Neurocutaneous Tuberous sclerosis complex Neurofibromatosis-1 Hypomelanosis of Ito Incontinentia pigmenti Epidermal nevus syndrome Metabolic Zellweger syndrome Menkes syndrome Neonatal adrenoleukodystrophy Other Aicardi s syndrome Angelman s syndrome Smith-Lemli-Opitz syndrome Waardenburg s syndrome Noonan s syndrome Ehlers-Danlos syndrome Adapted from Whiting S and Duchowny M 1999. 27) 3. Developmental delay 4. Focal neurologic deficit 5. Mental retardation 6. Other associated anomalies 7. General supportive cares 98 J Korean Epilep Soc Volume 4 December, 2000

고태성 결론 중심단어 REFERENCES 1) Andermann F, Guerrini R. The cortical dysplasias and epilepsy: An overview, in Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds): Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, LippincottRaven, 1996:441-50. 2) Barkovich AJ. Malformations of Cerebral Cortical Development, in Barkovich AJ (eds): Pediatric Neuroimaging, third edition. Philadelphia, Lippincott Williams & Wilkins, 2000:281-318. 3) Taylor DC, Falconer MA, Bruton CJ, Corsellis JAN. Focal dysplasia of the cerebral cortex in epielpsy. J Neurol Neurosurg Psychiatry 1971;34:369-87. 4) 김정호 고태성 문형남 최충곤. 신경세포이주및조직화장애의임상상과신경방사선학적의견에대한연구. 대한소아신경학회지 1996;3(2): 30-48. 5) Gunay M, Aysun S. Neuronal migrational disorders presenting with mild clinical symptoms. Pediatr Neurol 1996; 14:153-4. 6) Barkovich AJ, Kjos BO. Nonlissencephalic cortical dysplasia: Correlation of imaging findings with clinical deficits. Am J Neuroradiol 1992;13:95-103. 7) Packard AM, Miller VS, Delgado MR. Schizencephaly: correlation and radiologic features. Neurology 1997;48: 1427-34. 8) Ambrosetto G. Treatable partial epilepsy and unilateral opecular neuronal migration disorder. Epilepsia 1993;34: 604-8. 9) Dravet C, Guerrini R, Mancini J, et al. Different outcomes of epilepsy due to cortical dysplastic lesions, in Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds): Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, Lippncott-Raven, 1996: 323-8. 10) Chiron C, Dulac O, Beaumont D, et al. Therapeutic trial of vigabatrin in refractory infantile spasms. J Child Neurol 1991;6(Suppl 2):S52-S59. 11) Chiron C, Dulac O, Luna D, et al. Vigabatrin in infantile spasms. Lancet 1990;1:363-4. 12) Cieuta C, Guerrini R, Ferrari A, Dulac O. Antiepileptic drug treatment and intractability of epilepsy related to cortical dysplasia, in Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds): Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, Lippincott-Raven, 1996:337-44. 13) Palmini A, Gambardella A, Andermann F, et al. Operative strategies for patients with cortical dysplastic lesions and intractable epilepsy. Epilepsia 1994;35 (Supp 6):S57-S71. 14) Palmini A, Gambardella A, Andermann F, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol 1995;37:476-87. 15) Holthausen H, Teixeira VA, Tuxhorn I, et al. Epilepsy surgery in children and adolescents with focal cortical dysplasia, in Tuxhorn I, Holthausen H, Boenigk H (eds): Paediatric epilepsy syndrome and their surgical treatment, London, John Libbey, 1997:199-215. 16) Duchowny M, Jayakar P, Resnick, et al. Posterior temporal epilepsy: Electroclinical features. Ann Neurol 1994; 35:427-31. 17) Jayakar P, Duchowny M. Invasive EEG and functional cortical mapping, in Tuxhorn I, Holthausen H, Boenigk H (eds): Paediatric epilepsy syndrome and their surgical treatment, London, John Libbey, 1997:547-56. 18) Chugani HT, Shields WD, Shewmon DA, et al. Infantile spasms: 1. PET identifies focal cortical dysplasia in cryptogenic cases for surgical treatment. Ann Neurol 1990;27:406-13. 19) Dubeau F, Tampieri D, Andermann E, et al. Periventricular and subcortical nodular heterotopia: comparison of clinical findings and results of surgical treatment. in Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds): Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, Lippincott-Raven, 1996:395-406. 20) Landry H, Curless R, Ramsay E, et al. Corpus callosotomy for seizures asso- J Korean Epilep Soc Volume 4 December, 2000 99

대뇌피질발달기형의치료 ciated with band heterotopia. Epilepsia 1993;34:79-83. 21) Kuzniecky R, Andermann F, Guerrini R, CBPS Multicenter Collaborative Study. The congenital bilateral perisylvian syndrome, in Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds): Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, Lippincott-Raven, 1996:271-7. 22) Kim Y, Kim H, Palmini A, Woo Y, Lee M. Resective surgery for intractable epilepsy in patients with congenital bilateral perisylvian syndrome. Proceedings of International Bethel-Cleve- land Clinic Epilepsy Symposium [Abstract], 1995:95. 23) Guerreiro MM, Andermann F, Andermann E, et al. Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients. Neurology 1998;51:1263-9. 24) Vossler DG, Lee JK, Ko TS. Treatment of seizures in subcortical laminar heterotopia with corpus callosotomy and lamotrigine. J Child Neurol 1999;14: 282-8. 25) Kinsman SL, Vining EPG, Quaskey SA, Mellits D, Freeman JM. Efficacy of the ketogenic diet for intractable seizure disorder: Review of 58 cases. Epilepsia 1992;33:1132-6. 26) McLachlan RS. Vagus nerve stimulation for intractable epilepsy: A review. J Clin Neurophysiol 1997;14:358-68. 27) Whiting S, Duchowny M. Clinical spectrum of cortical dysplasia in childhood: Diagnosis and Treatment Issues. J Child Neurol 1999;14:759-71. 28) Dobyns W, Andermann E, Andermann F, et al. X-linked malformations of neuronal mirgation. Neurology 1996; 47:331-9. 100 J Korean Epilep Soc Volume 4 December, 2000