The clinical study of epilepsy induced by tuberous sclerosis complex in 54 subjects_Journal of Epilepsy

Authors：

 YI Nan ¹ , CHEN Yangmei ² , SHEN Dinglie ³

1. Department Of Internal Medicine, the Dong Nan Hospital of Chongqing, Chongqing 401336, China;
2. Department Of Neurology, the Second Affiliated Hospital of Chongqing Medical University, Chongqing 400010, China;
3. Epileptic Center, Guangdong Sanjiu Brain Hospital, Guangzhou 510510, China;

Corresponding author：

YI Nan, Email: chenym1997@sina.com

Keywords：

Tuberous sclerosis complex; Epilepsy; Clinical feature

DOI：

10.7507/2096-0247.20170015

Video：

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Objective Analyze the clinical features of epilepsy induced by tuberous sclerosis complex (TSC) to improve diagnosis and treatment level of this disease, and improve the prognosis. Methods The clinical data of 54 patients with epilepsy induced by TSC from May, 2012 to May, 2015 were analyzed together with the physical data, clinical presentations, EEG, imaging findings, treatment, prognosis and follow-up. Summarizing the clinical features of epilepsy induced by TSC. Results Patients with different epilepsy onset age, whether or not combined spasm, differences in intelligence status were statistically significant (P < 0.05); Patients with different gender, skin lesions, types of seizures, differences in intelligence status were no statistical significance (P > 0.05); Patients with different gender, epilepsy onset age, differences in patients with spasm were statistically significant (P < 0.05); Patients with different family history, skin lesions, types of seizures, differences in patients with spasm were not statistically significant (P > 0.05). Patients with different intelligence status, difference of medication quantity was statistically significant (P < 0.05); Patients with different gender, onset age, family history, skin lesions, whether or not combined spasm, types of seizures, difference of medication quantity was not statistically significant (P > 0.05). Conclusions Epilepsy is the most common neurological manifestations in TSC, mostly onset in early childhood. Seizure types are different from one to another. Patients can be combined with skin damage and mental retardation. Positive rate of EEG and head imaging examination are high, seizure control rate is low. Patients need long-term follow-up and timely adjustment of treatment. Intelligence status is related to epilepsy onset age, spasm. Patients with spasm are related to different gender, epilepsy onset age. Medication quantity is related to intelligence status.

Citation： YI Nan, CHEN Yangmei, SHEN Dinglie. The clinical study of epilepsy induced by tuberous sclerosis complex in 54 subjects. Journal of Epilepsy, 2017, 3(2): 107-114. doi: 10.7507/2096-0247.20170015 Copy

1.	Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics, 2010, 41(3): 199-208.
2.	Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 2008, 372(21): 657-668.
3.	Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol, 2000, 15(4): 652-659.
4.	Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med, 2006, 355(7): 1345-1356.
5.	van Slegtenhorst M, deHoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 1997, 277(3): 805-808.
6.	European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 1993, 75(5): 1305-1315.
7.	Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol, 2004, 19(7): 680-686.
8.	Stafstrom CE, Amason BG, Baram TZ, et al. Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. J Child Neurol, 2011, 26(7): 1411-1421.
9.	Curatolo P, Jozwiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol, 2012, 16(11): 582-586.
10.	Northrup H, Krueger DA. International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013, 49(4): 243-254.
11.	Hyman MH, Whittemore VH. National Institutes of health consensus conference: tuberous sclerosis complex. Arch Neurol, 2000, 57(3): 662-665.
12.	Dabora SL, Joswiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet, 2001, 68(5): 64-80.
13.	Cheadle J, Reeve M, Samson J, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet, 2000, 62(1): 345-357.
14.	Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med, 2007, 9(3): 88-100.
15.	Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol, 2013, 23(1): 45-52.
16.	Tsai V, Parker WE, Orlova KA, et al. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cereb Cortex, 2014, 24(2): 315-327.
17.	Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol, 1997, 94(2): 180-186.
18.	Luat AF, Makki M, Chugani HT. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol, 2007, 20(2): 142-150.
19.	Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype—phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet, 2005, 13(6): 731-746.
20.	Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsy chiatr Dis Treat, 2014, 10(6): 2021-2030.
21.	Lewis JC, Thomas HV, Murphy KC, et al. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet, 2004, 41(3): 203-208.
22.	Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(8): 1236-1241.
23.	Vignoli A, La Briola F, Turner K, et al. Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia, 2013, 54(12): 2134-2142.
24.	Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol, 2002, 6(10): 15-23.
25.	Weiner DM, Ewalt DH, Roach Es. The tuberous sclerosis complex: a comprehensive review. Current Neurology and Neuroscience Reports, 1998, 2(2): 158-163.
26.	Hunt A. Tuberous sclerosis: a survey of 97 cases. Ⅲ: Family aspects. Dev Med Child Neurol, 1983, 25(3): 353-358.
27.	Chalub EG. Neurocutaneous syndromes in children. Pediatr Clin North Am, 1976, 23(3): 499-516.
28.	Rosser T, Panigrahy A, McClintock W. The diverse manifestations of the tuberous sclerosis complex: a review. Semin Pediatr Neurol, 2006, 13(1): 27-36.
29.	Jansen FE, Braams O, Vincken KL, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology, 2008, 70(9): 908-915.
30.	Samir H, Ghaffar HA, Nasr M. Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases oftuberous sclerosis complex. Eur J Paediatr Neurol, 2011, 15(2): 131-137.
31.	de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol, 2015, 52(1): 25-35.
32.	Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol, 2015, 52(1): 16-24.
33.	Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int, 2004, 66(3): 924-934.
34.	Sampson JR, Maheshwar mm, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet, 1997, 61(4): 843-851.
35.	Bosi G, Lintermans JP, Pellegrino PA, et al. The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. Acta Paediatr, 1996, 85(8): 928-931.
36.	Mc Cormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med, 2011, 364(17): 1595-1606.
37.	Krueger DA, Northrup H, Roberds S, et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013, 49(7): 255-265.
38.	Riikonen R, Rener-Primec Z, Carmant L, et al. Does vigabatrin treatment for infantile spasms cause visual field defects? An international multicentre study. Dev Med Child Neurol, 2015, 57(10): 60-67.
39.	Cusmai R, Moavero R, Bombardieri R, et al. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. Epilepsy Behav, 2011, 22(4): 735-739.
40.	Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res, 2013, 105(11): 377-383.
41.	Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46(2): 1684-1686.
42.	Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet, 2013, 381(12): 116.
43.	Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet, 2013, 381(4): 817-824.

1. Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics, 2010, 41(3): 199-208.
2. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 2008, 372(21): 657-668.
3. Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol, 2000, 15(4): 652-659.
4. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med, 2006, 355(7): 1345-1356.
5. van Slegtenhorst M, deHoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 1997, 277(3): 805-808.
6. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 1993, 75(5): 1305-1315.
7. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol, 2004, 19(7): 680-686.
8. Stafstrom CE, Amason BG, Baram TZ, et al. Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. J Child Neurol, 2011, 26(7): 1411-1421.
9. Curatolo P, Jozwiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol, 2012, 16(11): 582-586.
10. Northrup H, Krueger DA. International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013, 49(4): 243-254.
11. Hyman MH, Whittemore VH. National Institutes of health consensus conference: tuberous sclerosis complex. Arch Neurol, 2000, 57(3): 662-665.
12. Dabora SL, Joswiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet, 2001, 68(5): 64-80.
13. Cheadle J, Reeve M, Samson J, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet, 2000, 62(1): 345-357.
14. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med, 2007, 9(3): 88-100.
15. Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol, 2013, 23(1): 45-52.
16. Tsai V, Parker WE, Orlova KA, et al. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cereb Cortex, 2014, 24(2): 315-327.
17. Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol, 1997, 94(2): 180-186.
18. Luat AF, Makki M, Chugani HT. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol, 2007, 20(2): 142-150.
19. Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype—phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet, 2005, 13(6): 731-746.
20. Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsy chiatr Dis Treat, 2014, 10(6): 2021-2030.
21. Lewis JC, Thomas HV, Murphy KC, et al. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet, 2004, 41(3): 203-208.
22. Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(8): 1236-1241.
23. Vignoli A, La Briola F, Turner K, et al. Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia, 2013, 54(12): 2134-2142.
24. Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol, 2002, 6(10): 15-23.
25. Weiner DM, Ewalt DH, Roach Es. The tuberous sclerosis complex: a comprehensive review. Current Neurology and Neuroscience Reports, 1998, 2(2): 158-163.
26. Hunt A. Tuberous sclerosis: a survey of 97 cases. Ⅲ: Family aspects. Dev Med Child Neurol, 1983, 25(3): 353-358.
27. Chalub EG. Neurocutaneous syndromes in children. Pediatr Clin North Am, 1976, 23(3): 499-516.
28. Rosser T, Panigrahy A, McClintock W. The diverse manifestations of the tuberous sclerosis complex: a review. Semin Pediatr Neurol, 2006, 13(1): 27-36.
29. Jansen FE, Braams O, Vincken KL, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology, 2008, 70(9): 908-915.
30. Samir H, Ghaffar HA, Nasr M. Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases oftuberous sclerosis complex. Eur J Paediatr Neurol, 2011, 15(2): 131-137.
31. de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol, 2015, 52(1): 25-35.
32. Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol, 2015, 52(1): 16-24.
33. Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int, 2004, 66(3): 924-934.
34. Sampson JR, Maheshwar mm, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet, 1997, 61(4): 843-851.
35. Bosi G, Lintermans JP, Pellegrino PA, et al. The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. Acta Paediatr, 1996, 85(8): 928-931.
36. Mc Cormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med, 2011, 364(17): 1595-1606.
37. Krueger DA, Northrup H, Roberds S, et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013, 49(7): 255-265.
38. Riikonen R, Rener-Primec Z, Carmant L, et al. Does vigabatrin treatment for infantile spasms cause visual field defects? An international multicentre study. Dev Med Child Neurol, 2015, 57(10): 60-67.
39. Cusmai R, Moavero R, Bombardieri R, et al. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. Epilepsy Behav, 2011, 22(4): 735-739.
40. Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res, 2013, 105(11): 377-383.
41. Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46(2): 1684-1686.
42. Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet, 2013, 381(12): 116.
43. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet, 2013, 381(4): 817-824.

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