以婴儿痉挛为首发症状的Ⅰ型神经纤维瘤病1例并文献复习
Neurofibromatosis Type I with Infantile Spasm as Initial Symptom: A Case Report and Literature Review
DOI: 10.12677/ACRP.2019.73004, PDF,  被引量   
作者: 李 青, 张玉琴：天津市儿童医院神经内科，天津
关键词: I型神经纤维瘤病；婴儿痉挛；基因突变；Neurofibromatosis Type I； Infantile Spasms； Gene Mutation
摘要: I型神经纤维瘤病是一种常染色体显性遗传病，发病时以婴儿痉挛为首发症状的临床报道罕见，多通过基因检测辅助临床诊断，本病例常规抗癫痫药物治疗效果不明显，改用氨己烯酸后痉挛消失，预后发育状况均较好。
Abstract: Neurofibromatosis type I is an autosomal dominant genetic disease, which is rare in clinical reports with infantile spasm as the initial symptom, and most of them are assisted by gene detection in clinical diagnosis, but the effect of conventional antiepileptic drugs is not obvious. After using vigabatrin, the spasm disappeared and the prognosis was better.
文章引用：李青, 张玉琴. 以婴儿痉挛为首发症状的Ⅰ型神经纤维瘤病1例并文献复习[J]. 亚洲儿科病例研究, 2019, 7(3): 21-25. https://doi.org/10.12677/ACRP.2019.73004

参考文献

[1] 胡亚美, 江载芳. 诸福棠实用儿科学[M]. 第7版. 北京: 人民卫生出版社, 2012: 1906-1907.
[2] 刘妍, 袁裕衡, 马明圣, 等. NF1基因突变致1型神经纤维瘤病8例临床分析[J]. 临床儿科杂志, 2016, 34(11): 819-824.
[3] 邓骥, 余霞辉, 王学珍, 等. 儿童Ⅰ型神经纤维瘤病1例及家系分析[J]. 西南医科大学学报, 2014, 37(1): 120-121.
[4] Upadhyaya, M., Osborn, M., Maynard, J. and Harper, P. (1996) Characterization of Six Mutations in Exon 37 of Neurofibromatosis Type 1 Gene. American Journal of Medical Genetics, 67, 421-423. [Google Scholar] [CrossRef] 
[5] Hsieh, H.Y., Fung, H.C., Wang, C.J., Chin, S.-C. and Wu, T. (2011) Epileptic Seizures in Neurofibromatosis Type 1 Are Related to Intracranial Tumors but Not to Neurofibromatosis Bright Objects. Seizure, 20, 606-611. [Google Scholar] [CrossRef] [PubMed]
[6] Ruggieri, M., Iannetti, P., Clementi, M., et al. (2009) Neurofi-bromatosis Type 1 and Infantile Spasms. Child’s Nervous System, 25, 211-216. [Google Scholar] [CrossRef] [PubMed]
[7] Shang, N.X., Zou, L.P., Zhao, J.B., Zhang, F. and Li, H. (2010) Association between Prenatal Stress and Infantile Spasms: A Case-Control Study in China. Pediatric Neurology, 42, 181-186. [Google Scholar] [CrossRef] [PubMed]
[8] Pellock, I.M., Hrachovy, R., Shinnar, S., et al. (2010) Infantile Spasms: A U.S. Consensus Report. Epilepsia, 51, 2175-2189. [Google Scholar] [CrossRef] [PubMed]
[9] 张新颜, 张帅, 邓欣, 等. 氨己烯酸在结节性硬化症并婴儿痉挛症患儿中的治疗效果分析[J]. 临床误诊误治, 2016, 29(4): 75-79.
[10] Yan, M. and Dai, T.J. (2004) The Relationship between the Analgesic and Hypnotic Effects of Volatile Anesthetic and GABAA Receptor. Chinese Pharmacological Bulletin, 20, 521-523.
[11] 聂宏光, 蔡际群, 姚维范. 氨己烯酸对自发性癫痫大鼠小发作和大发作的作用[J]. 中国药理学通报, 2007, 23(5): 597-600.
[12] Gaily, E., Jonsson, H. and Lappi, M. (2009) Visual Fields at School-Age in Children Treated with Vigabatrin in infancy. Epilepsia, 50, 206-216. [Google Scholar] [CrossRef] [PubMed]
[13] Taghdiri, M.M., Ashrafi, M.R., Bakhshandeh-Bali, M.K., et al. (2013) Clinical Trial of Vigabatrin as Adjunctive Therapy in Children with Refractory Epilepsy. Iranian Journal of Pediatrics, 23, 653-658.
[14] Jozwiak, S., Kotulska, K., Domanska-Pakiela, D., et al. (2011) Antiepileptic Treatment before the Onset of Seizures Reduces Epilepsy Severity and Risk of Mental Retardation in Infants with Tuberous Sclerosis Complex. European Journal of Paediatric Neurology, 15, 424-431. [Google Scholar] [CrossRef] [PubMed]
[15] Domanska Pakiela, D., Kaczorowaka, M., Jukiewicz, E., et al. (2014) EEG Abnormalities Preceding the Epilepsy Onset in Tuberous Sclerosis Complex—A Prospective Study of 5 Patients. European Journal of Paediatric Neurology, 18, 458-468. [Google Scholar] [CrossRef] [PubMed]