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

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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. 刘静, 朴月善, 卢德宏. 结节性硬化相关基因及其表达产物的研究进展. 中华病理学杂志, 2010, 39(3): 210-212.
5. 胡湘蜀, 李花, 刁芳明, 等. 癫痫患者 5572 例病因分析. 中华神经科杂志, 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. 张志芳, 许燮萍, 贾莉娟, 等. 结节性硬化患儿脑电图及其与临床的关系. 临床神经电生理杂志, 2004, 13(1): 25-27.
8. Sharon Samueli, Anastasia Dressler, Gudrun Gröppel, <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. 赵玉武, 孙晓江, 郑惠民, 等. 结节性硬化症诊断标准中不同临床表现发生率的研究. 临床神经病学杂志, 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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