结节性硬化症诊断及其相关癫痫的非手术治疗
摘要
结节性硬化症(Tuberous sclerosiscomplex,TSC)是一种罕见的TSC基因突变引起的常染色体显性遗传性神经皮肤综合征,可累及皮肤、神经、眼、心肺肾等多器官,临床表现或基因检测可以诊断。颅内病变为皮质结节、室管膜下巨细胞星形细胞瘤和钙化灶,癫痫是其主要的神经系统表现,且与智力损害及神经心理异常密切相关。TSC相关癫痫的非手术治疗包括哺乳动物雷帕霉素靶蛋白抑制剂、抗癫痫药物和生酮饮食等,但药物难治性癫痫比率超过50%;其中TSC相关的婴儿痉挛症首选氨己烯酸治疗。
引文
1Curatolo P, Nabbout R, Lagae L, et al. Management of epilepsy associated with tuberous sclerosis complex:updated clinical recommendations. Eur J Paediatr Neurol, 2018, 22(5):738-748.
2 Wang YY, Pang LY, Ma SF, et al. Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis:a retrospective cohort study. Epilepsy Behav, 2017, 77:13-18.
3Roach ES. Applying the lessons of tuberous sclerosis:the 2015hower award lecture. Pediatr Neurol, 2016, 63:6-22.
4 Yang G, Shi ZN, Meng Y, et al. Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. Clin Genet, 2017, 91(5):764-768.
5van Eeghen AM, Black ME, Pulsifer MB, et al. Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Eur J Hum Genet, 2012, 20(5):510-515.
6 Saxena A, Sampson JR. Epilepsy in Tuberous sclerosis:phenotypes,mechanisms, and treatments. Semin Neurol, 2015, 35(3):269-276.
7Bolton PF, Clifford M, Tye C, et al. Intellectual abilities in tuberous sclerosis complex:risk factors and correlates from the Tuberous Sclerosis 2000 Study. Psychol Med, 2015, 45(11):2321-2331.
8 Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol, 2015, 14(7):733-745.
9Welin KO, Carlqvist P, Svensson A, et al. Epilepsy in tuberous sclerosis patients in Sweden-healthcare utilization, treatment,morbidity, and mortality using national register data. Seizure, 2017,53:4-9.
10 Jeong A, Nakagawa JA, Wong M. Predictors of drug-resistant epilepsy in tuberous sclerosis complex. J Child Neurol, 2017,32(14):1092-1098.
11Gül Mert G, Altunba?ak?, Hergüner?, et al. Factors affecting epilepsy prognosis in patients with tuberous sclerosis.Childs Nerv Syst, 2019, 35(3):463-468.
12 Benova B, Petrak B, Kyncl M, et al. Early predictors of clinical and mental outcome in tuberous sclerosis complex:a prospective study.Eur J Paediatr Neurol, 2018, 22(4):632-641.
13Overwater IE, Verhaar BJ, Lingsma HF, et al. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. J Neurol, 2017, 264(1):161-167.
14Fohlen M, Taussig D, Ferrand-Sorbets S, et al. Refractory epilepsy in preschool children with tuberous sclerosis complex:early surgical treatment and outcome. Seizure, 2018, 60:71-79.
15 Liang S, Li A, Zhao M, et al. Epilepsy surgery in tuberous sclerosis complex:emphasis on surgical candidate and neuropsychology.Epilepsia, 2010, 51(11):2316-2321.
16Liang S, Zhang J, Yang Z, et al. Long-term outcomes of epilepsy surgery in tuberous sclerosis complex. J Neurol, 2017, 264(6):1146-1154.
17 Gipson TT, Johnston MV. New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders(TAND). F1000Res, 2017, 6:F1000 Faculty Rev-859.
18Wilde L, Eden K, de Vries P, et al. Self-injury and aggression in adults with tuberous sclerosis complex:frequency, associated person characteristics, and implications for assessment. Res Dev Disabil, 2017, 64:119-130.
19 Northrup H, Krueger DA, International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update:recommendations of the 2012 Iinternational tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013,49(4):243-254.
20Amin S, Lux A, Calder N, et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol, 2017,59(6):612-617.
21 Yang G, Yang L, Yang X, et al. Efficacy and safety of a mammalian target of rapamycin inhibitor in pediatric patients with tuberous sclerosis complex:a systematic review and meta-analysis. Exp Ther Med, 2015, 9(2):626-630.
22Samueli S, Abraham K, Dressler A, et al. Efficacy and safety of Everolimus in children with TSC-associated epilepsy-Pilot data from an open single-center prospective study. Orphanet J Rare Dis,2016, 11(1):145.
23 Curatolo P, Franz DN, Lawson JA, et al. Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex:post-hoc analysis of the phase 3 EXIST-3 trial. Lancet Child Adolesc Health, 2018, 2(7):495-504.
24Muncy J, Butler IJ, Koenig MK. Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol, 2009,24(4):477.
25 邹丽萍,刘玉洁,庞领玉,等.雷帕霉素治疗儿童结节性硬化症合并癫痫的临床效果及安全性观察.中华儿科杂志, 2014, 52(11):812-816.
26Zou LP, Liu YT. Letter re:sirolimus for epilepsy in children with tuberous sclerosis complex:A randomized controlled trial.Neurology, 2017, 88(10):1008.
27 Overwater IE, Rietman AB, Bindels-de Heus K, et al. Sirolimus for epilepsy in children with tuberous sclerosis complex:a randomized controlled trial. Neurology, 2016, 87(10):1011-1018.
28Krueger D, Wilfong A, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol, 2013, 74(5):679-687.
29 Krueger DA, Wilfong AA, Mays M, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology, 2016,87(23):2408-2415.
30Jó?wiak S, Kotulska K, Domańska-Pakie?a D, et al. 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.
31 Tibussek D, Klepper J, Korinthenberg R, et al. Treatment of infantile Spasms:report of the interdisciplinary guideline committee coordinated by the german-speaking society for neuropediatrics. Neuropediatrics, 2016, 47(3):139-150.
32Elterman RD, Shields WD, Bittman RM, et al. Vigabatrin for the treatment of infantile spasms:final report of a randomized trial. J Child Neurol, 2010, 25(11):1340-1347.
33 Jennesson M, van Eeghen AM, Caruso PA, et al. Clobazam therapy of refractory epilepsy in tuberous sclerosis complex. Epilepsy Res,2013, 104(3):269-274.
34Hess EJ, Moody KA, Geffrey AL, et al. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex.Epilepsia, 2016, 57(10):1617-1624.
35 Geffrey AL, Belt OD, Paolini JL, et al. Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex.Epilepsy Res, 2015, 112:72-75.
36Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46(10):1684-1686.
37 Park S, Lee EJ, Eom S, et al. Ketogenic diet for the management of epilepsy associated with tuberous sclerosis complex in children. J Epilepsy Res, 2017, 7(1):45-49.
2 Wang YY, Pang LY, Ma SF, et al. Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis:a retrospective cohort study. Epilepsy Behav, 2017, 77:13-18.
3Roach ES. Applying the lessons of tuberous sclerosis:the 2015hower award lecture. Pediatr Neurol, 2016, 63:6-22.
4 Yang G, Shi ZN, Meng Y, et al. Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. Clin Genet, 2017, 91(5):764-768.
5van Eeghen AM, Black ME, Pulsifer MB, et al. Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Eur J Hum Genet, 2012, 20(5):510-515.
6 Saxena A, Sampson JR. Epilepsy in Tuberous sclerosis:phenotypes,mechanisms, and treatments. Semin Neurol, 2015, 35(3):269-276.
7Bolton PF, Clifford M, Tye C, et al. Intellectual abilities in tuberous sclerosis complex:risk factors and correlates from the Tuberous Sclerosis 2000 Study. Psychol Med, 2015, 45(11):2321-2331.
8 Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol, 2015, 14(7):733-745.
9Welin KO, Carlqvist P, Svensson A, et al. Epilepsy in tuberous sclerosis patients in Sweden-healthcare utilization, treatment,morbidity, and mortality using national register data. Seizure, 2017,53:4-9.
10 Jeong A, Nakagawa JA, Wong M. Predictors of drug-resistant epilepsy in tuberous sclerosis complex. J Child Neurol, 2017,32(14):1092-1098.
11Gül Mert G, Altunba?ak?, Hergüner?, et al. Factors affecting epilepsy prognosis in patients with tuberous sclerosis.Childs Nerv Syst, 2019, 35(3):463-468.
12 Benova B, Petrak B, Kyncl M, et al. Early predictors of clinical and mental outcome in tuberous sclerosis complex:a prospective study.Eur J Paediatr Neurol, 2018, 22(4):632-641.
13Overwater IE, Verhaar BJ, Lingsma HF, et al. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. J Neurol, 2017, 264(1):161-167.
14Fohlen M, Taussig D, Ferrand-Sorbets S, et al. Refractory epilepsy in preschool children with tuberous sclerosis complex:early surgical treatment and outcome. Seizure, 2018, 60:71-79.
15 Liang S, Li A, Zhao M, et al. Epilepsy surgery in tuberous sclerosis complex:emphasis on surgical candidate and neuropsychology.Epilepsia, 2010, 51(11):2316-2321.
16Liang S, Zhang J, Yang Z, et al. Long-term outcomes of epilepsy surgery in tuberous sclerosis complex. J Neurol, 2017, 264(6):1146-1154.
17 Gipson TT, Johnston MV. New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders(TAND). F1000Res, 2017, 6:F1000 Faculty Rev-859.
18Wilde L, Eden K, de Vries P, et al. Self-injury and aggression in adults with tuberous sclerosis complex:frequency, associated person characteristics, and implications for assessment. Res Dev Disabil, 2017, 64:119-130.
19 Northrup H, Krueger DA, International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update:recommendations of the 2012 Iinternational tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013,49(4):243-254.
20Amin S, Lux A, Calder N, et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol, 2017,59(6):612-617.
21 Yang G, Yang L, Yang X, et al. Efficacy and safety of a mammalian target of rapamycin inhibitor in pediatric patients with tuberous sclerosis complex:a systematic review and meta-analysis. Exp Ther Med, 2015, 9(2):626-630.
22Samueli S, Abraham K, Dressler A, et al. Efficacy and safety of Everolimus in children with TSC-associated epilepsy-Pilot data from an open single-center prospective study. Orphanet J Rare Dis,2016, 11(1):145.
23 Curatolo P, Franz DN, Lawson JA, et al. Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex:post-hoc analysis of the phase 3 EXIST-3 trial. Lancet Child Adolesc Health, 2018, 2(7):495-504.
24Muncy J, Butler IJ, Koenig MK. Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol, 2009,24(4):477.
25 邹丽萍,刘玉洁,庞领玉,等.雷帕霉素治疗儿童结节性硬化症合并癫痫的临床效果及安全性观察.中华儿科杂志, 2014, 52(11):812-816.
26Zou LP, Liu YT. Letter re:sirolimus for epilepsy in children with tuberous sclerosis complex:A randomized controlled trial.Neurology, 2017, 88(10):1008.
27 Overwater IE, Rietman AB, Bindels-de Heus K, et al. Sirolimus for epilepsy in children with tuberous sclerosis complex:a randomized controlled trial. Neurology, 2016, 87(10):1011-1018.
28Krueger D, Wilfong A, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol, 2013, 74(5):679-687.
29 Krueger DA, Wilfong AA, Mays M, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology, 2016,87(23):2408-2415.
30Jó?wiak S, Kotulska K, Domańska-Pakie?a D, et al. 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.
31 Tibussek D, Klepper J, Korinthenberg R, et al. Treatment of infantile Spasms:report of the interdisciplinary guideline committee coordinated by the german-speaking society for neuropediatrics. Neuropediatrics, 2016, 47(3):139-150.
32Elterman RD, Shields WD, Bittman RM, et al. Vigabatrin for the treatment of infantile spasms:final report of a randomized trial. J Child Neurol, 2010, 25(11):1340-1347.
33 Jennesson M, van Eeghen AM, Caruso PA, et al. Clobazam therapy of refractory epilepsy in tuberous sclerosis complex. Epilepsy Res,2013, 104(3):269-274.
34Hess EJ, Moody KA, Geffrey AL, et al. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex.Epilepsia, 2016, 57(10):1617-1624.
35 Geffrey AL, Belt OD, Paolini JL, et al. Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex.Epilepsy Res, 2015, 112:72-75.
36Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46(10):1684-1686.
37 Park S, Lee EJ, Eom S, et al. Ketogenic diet for the management of epilepsy associated with tuberous sclerosis complex in children. J Epilepsy Res, 2017, 7(1):45-49.