Angelman综合征合并吡哆醇依赖性癫痫一例并文献复习  

A Case of Angelman Syndrome with Pyridoxin-dependent Epilepsy and Literature Review

作　　者：陈先睿[1] 许锦平 姚拥华[1] 陈玲[1] CHEN Xianrui;XU Jinping;YAO Yonghua;CHEN Ling(Department of Pediatrics,the First Affiliated Hospital of Xiamen University/Pediatric Key Laboratory of Xiamen/Institute of Pediatrics,School of Medicine,Xiamen University,Xiamen 361003,China)

机构地区：[1]厦门大学附属第一医院儿科厦门市儿科重点实验室厦门大学医学院儿童医学研究所,福建省厦门市361003

出　　处：《中国全科医学》2021年第3期363-366,371,共5页Chinese General Practice

摘　　要：Angelman综合征(AS)是以发育迟缓、智力低下、严重语言障碍、共济失调、癫痫发作、愉快表情为特征的一种罕见神经遗传性疾病。吡哆醇(维生素B6)依赖性癫痫(PDE)是一种罕见的常染色体隐性遗传病,其特征是新生儿期难治性和反复的癫痫发作,可通过高剂量吡哆醇有效控制癫痫发作。本文报道1例罕见的AS合并PDE患儿的临床表现及基因特征,并复习相关文献,以提高对该罕见病的认识。提示早期进行相关基因突变的检测,可为AS及PDE的早期诊治及预后提供临床参考。Angelman syndrome is a rare neurodevelopmental disorder characterized by developmental delay,mental retardation,severe speech impairment,gait ataxia,seizures,and exuberant behavior with happy demeanor.Pyridoxine(vitamin B6)-dependent epilepsy is a rare autosomal recessive hereditary disease condition characterized by intractable and recurrent neonatal seizures,which is uniquely alleviated by high doses of pyridoxine.We reported the clinical manifestations and genetic characteristics of a case of Angelman syndrome with pyridoxin-dependent epilepsy.And relevant literature was also reviewed to improve the awareness of this rare disease.Early identification of gene mutations will be beneficial to timely diagnosis,intervention delivery and prognosis evaluation for Angelman syndrome and pyridoxin-dependent epilepsy.

关 键 词：ANGELMAN综合征 吡哆醇依赖性癫痫 基因突变 癫痫 

分 类 号：R596.1[医药卫生—内科学]