Clinical characteristics of 30 children with tuberous sclerosis_Journal of Epilepsy

Authors：

YIN Xiaojing , ZHANG Jun , LIU Fen , ZHU Ruiyuan , WANG Li , SONG Lifang , XU Kaili ,  CHEN Guohong

Department of Neurology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou 450003, China;

Corresponding?author：

CHEN Guohong, Email: 1879872583@qq.com

Keywords：

Tuberous sclerosis; Epilepsy; Electroencephalogram; Children

DOI：

10.7507/2096-0247.20200067

Video：

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Objective To analyze and summarize the clinical and video EEG (VEEG) characteristics of tuberous sclerosis (TSC) with epilepsy.Methods Clinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan. 2016 to May 2019 in Zhengzhou Children’s Hospital were collected, including 29 children with epileptic seizures. The characteristics of skin lesions, imaging, seizures and long-term VEEG were analyzed retrospectively.Results The mean age was (2.88 ± 2.64), 12 males and 18 females, 1 case of lumbar acid as the first symptom, 29 cases with epilepsy as the first symptom, the incidence of epilepsy is high, and the onset age is less than 1 year old; TSC can cause different degrees of cognitive impact; depigmentation or milk coffee spots are the most common skin changes in young children; TSC with infantile spasm has a high incidence; children younger than 10 years old may have lesions of other organs except nervous system lesions. However, the incidence of other organ lesions was relatively low. Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.Conclusion The clinical characteristics of TSC with epileptic seizures are various, and early diagnosis is of great significance.

Citation： YIN Xiaojing, ZHANG Jun, LIU Fen, ZHU Ruiyuan, WANG Li, SONG Lifang, XU Kaili, CHEN Guohong. Clinical characteristics of 30 children with tuberous sclerosis. Journal of Epilepsy, 2020, 6(5): 416-419. doi: 10.7507/2096-0247.20200067 Copy

1.	Chu-Shore CJ, Major P, Camposano S, <italic>et al</italic>. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(7): 1236-1241.
2.	Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsy chiatric aspects of tuberous sclerosis complex. Lancet Neurol, 2015, 14(5): 733-745.
3.	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 Neur, 2013, 49(4): 243-254.
4.	劉靜, 樸月善, 盧德宏. 結節性硬化相關基因及其表達產物的研究進展. 中華病理學雜志, 2010, 39(3): 210-212.
5.	胡湘蜀, 李花, 刁芳明, 等. 癲癇患者 5572 例病因分析. 中華神經科雜志, 2012, 45(4): 244-248.
6.	Hilaire C Lam, Julie Nijmeh, Elizabeth P Henske. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol, 2017, 11(241): 219-225.
7.	張志芳, 許燮萍, 賈莉娟, 等. 結節性硬化患兒腦電圖及其與臨床的關系. 臨床神經電生理雜志, 2004, 13(1): 25-27.
8.	Sharon Samueli, Anastasia Dressler, Gudrun Gr?ppel, <italic>et al</italic>. Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study. Epilepsia, 2018, 7(15): 1-5.
9.	趙玉武, 孫曉江, 鄭惠民, 等. 結節性硬化癥診斷標準中不同臨床表現發生率的研究. 臨床神經病學雜志, 2006, 19(3): 170.
10.	Mettin RR, Merkenschlager A, Bernhard MK, <italic>et al</italic>. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex-follow-up of 20 children. Brain Dev, 2014, 36(4): 306-314.
11.	Rosser T, Panigrahy A, McClintock W. The diverse manifestations of the tuberous sclerosis complex: a review. Semin Pediatr Neurol, 2006, 13(1): 27-36.
12.	Sun SY. MTOR kinase inhibitors as potential cancer therapeutic drugs. Cancer Letters, 2013, 340(1): 1-8.
13.	Evan J Hess, Kirsten A Moody, Alexandra L, <italic>et al</italic>. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex. Epilepsia, 2017, 7(20): 1-8.

1. Chu-Shore CJ, Major P, Camposano S, <italic>et al</italic>. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(7): 1236-1241.
2. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsy chiatric aspects of tuberous sclerosis complex. Lancet Neurol, 2015, 14(5): 733-745.
3. 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 Neur, 2013, 49(4): 243-254.
4. 劉靜, 樸月善, 盧德宏. 結節性硬化相關基因及其表達產物的研究進展. 中華病理學雜志, 2010, 39(3): 210-212.
5. 胡湘蜀, 李花, 刁芳明, 等. 癲癇患者 5572 例病因分析. 中華神經科雜志, 2012, 45(4): 244-248.
6. Hilaire C Lam, Julie Nijmeh, Elizabeth P Henske. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol, 2017, 11(241): 219-225.
7. 張志芳, 許燮萍, 賈莉娟, 等. 結節性硬化患兒腦電圖及其與臨床的關系. 臨床神經電生理雜志, 2004, 13(1): 25-27.
8. Sharon Samueli, Anastasia Dressler, Gudrun Gr?ppel, <italic>et al</italic>. Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study. Epilepsia, 2018, 7(15): 1-5.
9. 趙玉武, 孫曉江, 鄭惠民, 等. 結節性硬化癥診斷標準中不同臨床表現發生率的研究. 臨床神經病學雜志, 2006, 19(3): 170.
10. Mettin RR, Merkenschlager A, Bernhard MK, <italic>et al</italic>. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex-follow-up of 20 children. Brain Dev, 2014, 36(4): 306-314.
11. Rosser T, Panigrahy A, McClintock W. The diverse manifestations of the tuberous sclerosis complex: a review. Semin Pediatr Neurol, 2006, 13(1): 27-36.
12. Sun SY. MTOR kinase inhibitors as potential cancer therapeutic drugs. Cancer Letters, 2013, 340(1): 1-8.
13. Evan J Hess, Kirsten A Moody, Alexandra L, <italic>et al</italic>. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex. Epilepsia, 2017, 7(20): 1-8.

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Clinical characteristics of 30 children with tuberous sclerosis

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