Clinical features and electroencephalogram characteristics of tuberous sclerosis complex in children with epilepsy_Journal of Epilepsy

Authors：

 YUXiongying , YIZhaoshi , ZHAJian , WUHuaping , LIXiaoyan , CHENYong ,  ZHONGJianmin

Department of Neurology, JiangXi Province Children's Hospital, NanChang 330006, China;

Corresponding author：

ZHONGJianmin, Email: zhongjm@163.com

Keywords：

Epilepsy; Tuberous sclerosis complex; Clinical electrophysiology; Electroencephalogram(EEG)

DOI：

10.7507/2096-0247.20160070

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Objective To probe the clinical features and the characteristics of radiography and electroencephalogram (EEG) of tuberous sclerosis complex(TSC) in children with epilepsy. Method sThe clinical data of the TSC cases with epilepsy were collected from inpatients in Jiangxi Children's Hospital from Jan. 2013 to Oct. 2015. Result sAmong the 26 cases, 21 cases(21/26, 80.77%) involved abnormalities of the skin. Of these patients, there were 10 cases with hypomelanotic macules, 7 cases with café au lait spots and 4 cases with facial angiofibromas. There were no significant difference among the different age groups. In addition, there were 8 cases (8/26, 30.77%) with spasm seizures, of whom 3 cases had partial seizure, 10 cases (10/26, 38.46%) with complex partial seizure, 5 cases(5/26, 19.23%) with secondary generalized seizure, 2 cases(2/26, 7.69%) with tonic-clonic seizure and one case with Lennox-Gastaut syndrom(1/26, 3.85%). The average onset age of the epileptic spasms group were younger than those of the other epilepsy groups (t=2.143, P=0.042). EEG monitoring demonstrated hypsarrhythmia in 7 cases (7/26, 26.92%) in the interictal EEG, focal epileptic discharges in 11 cases (11/26, 42.31%), multifocal discharges in 5 cases, the slow background activity in 2 cases and the normal EEG in one case. Cranial imaging demonstrated subependymal nodules (SEN) in 25 cases(25/26, 96.15%) was the most common. Conclusion The clinical manifestations and seizure types of TSC in children, especially in infants and young children, were diverse and age-dependent. It was very important to improve understanding of the clinical features and related risks of TSC at various ages, which was helpful to diagnose TSC early.

Citation： YUXiongying, YIZhaoshi, ZHAJian, WUHuaping, LIXiaoyan, CHENYong, ZHONGJianmin. Clinical features and electroencephalogram characteristics of tuberous sclerosis complex in children with epilepsy. Journal of Epilepsy, 2016, 2(5): 397-400. doi: 10.7507/2096-0247.20160070 Copy

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2.	Northrup H, Krueger DA, Roberds S, et al. Tuberous sclerosis complex surveillance and management:recommendations of the 2012 international tuberous scerosis comples consensus conference. Pediatric Neurology, 2013, 49(4):243-254.
3.	邓劼, 张月华, 刘晓燕, 等.发作和癫痫分类框架相关术语和概念修订.中国实用儿科杂志, 2011, 26(7):25-31.
4.	O'Callaghan FJ, Shiell AW, Osborne JP, et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet, 1998, 351(9114):1490.
5.	Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 2008, 372(9639):657-668.
6.	Lagos JC, Gomez MR. Tuberous sclerosis:reappraisal of a clinical entity. Mayo Clin Proc, 1967, 42(1):26-49.
7.	Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol, 2000, 15(10):652-659.
8.	Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis:a population study. Dev Med Child Neurol, 1996, 38(2):146-155.
9.	Curatolo P, Jó Az'G wiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC):Clinical recommendations. Eur J Paediatr Neurol, 2012, 16(6):582-586.
10.	文家伦, 廖建湘, 陈黎, 等.小儿结节性硬化症合并癫痫的随访研究.中国当代儿科杂志, 2009, 11(12):996-998.
11.	Kingswood JC, Perus J. Tuberous sclerosis complex. Paediatrics and Child Health, 2015, 25(10):467-473.
12.	Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(7):1236-1241.
13.	Humphrey A, Higgins JN, Yates JR, et al. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology, 2004, 62(5):795-798.
14.	Jó Az'G wiak S, Kotulska K, Domańska-Pakiela D. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol, 2011, 15(5):424-431.
15.	Jozwiak S, Kotulska K, Kasprzyk-Obara J, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics, 2006, 118(4):e1146-1151.

1. DiMario FJ Jr, Sahin M, Ebrahimi Fakhari D, et al. Tuberous sclerosis complex. Pediatr Clin North (Am), 2015, 62(3):633-648.
2. Northrup H, Krueger DA, Roberds S, et al. Tuberous sclerosis complex surveillance and management:recommendations of the 2012 international tuberous scerosis comples consensus conference. Pediatric Neurology, 2013, 49(4):243-254.
3. 邓劼, 张月华, 刘晓燕, 等.发作和癫痫分类框架相关术语和概念修订.中国实用儿科杂志, 2011, 26(7):25-31.
4. O'Callaghan FJ, Shiell AW, Osborne JP, et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet, 1998, 351(9114):1490.
5. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 2008, 372(9639):657-668.
6. Lagos JC, Gomez MR. Tuberous sclerosis:reappraisal of a clinical entity. Mayo Clin Proc, 1967, 42(1):26-49.
7. Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol, 2000, 15(10):652-659.
8. Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis:a population study. Dev Med Child Neurol, 1996, 38(2):146-155.
9. Curatolo P, Jó Az'G wiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC):Clinical recommendations. Eur J Paediatr Neurol, 2012, 16(6):582-586.
10. 文家伦, 廖建湘, 陈黎, 等.小儿结节性硬化症合并癫痫的随访研究.中国当代儿科杂志, 2009, 11(12):996-998.
11. Kingswood JC, Perus J. Tuberous sclerosis complex. Paediatrics and Child Health, 2015, 25(10):467-473.
12. Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(7):1236-1241.
13. Humphrey A, Higgins JN, Yates JR, et al. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology, 2004, 62(5):795-798.
14. Jó Az'G wiak S, Kotulska K, Domańska-Pakiela D. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol, 2011, 15(5):424-431.
15. Jozwiak S, Kotulska K, Kasprzyk-Obara J, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics, 2006, 118(4):e1146-1151.

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