首都医科大学宣武医院神经遗传代谢病例表型分析和分子解读.儿童篇

本书稿主题明确, 聚焦于儿童神经遗传代谢病的表型分析和分子解读, 内容涵盖了疾病的临床表现、实验室检查、影像学检查、基因诊断、治疗与预后等方面。本书稿收录了13个代表性病例, 包括唾液酸沉积症、近端肾小管性酸中毒伴眼部异常和智力迟钝、肌肉强直伴高甘氨酸血症、X连锁智力发育迟缓综合征、易染性脑白质营养不良等神经遗传代谢病, 将病例完整展现, 同时兼顾临床思维的梳理, 基于最新的科研成果和临床数据, 确保书稿的准确性和权威性。

王朝东，主任医师，教授，博士生导师。神经遗传与神经代谢专科主任，国家老年疾病临床医学研究中心办公室主任。国家科技部“主动健康与老龄化科技应对”重点项目专家组成员，北京市医学会遗传学分会常务委员，北京市医学会帕金森病及运动障碍委员会委员，中国医师协会老年病学分会委员。

病例1　 NEU1复合杂合突变导致唾液酸沉积症 I型······································ 1病例2　 SLC4A4基因突变致近端肾小管性酸中毒伴眼部异常和智力低下 ·········10病例3　 GLRX5纯合突变导致儿童期起病肌肉强直伴高甘氨酸血症 ················19病例4　 KMT2A基因突变致 Wiedemann-Steiner综合征 ······························27病例5　 PHF8基因突变致 Siderius型 X-连锁智力发育迟缓综合征 ················36病例6　 ARSA复合杂合突变导致的异染性脑白质营养不良 ···························45病例 7　TUBB4A基因新发突变致低髓鞘性脑白质营养不良 6型 ····················55病例8　 RERE基因突变致神经发育异常伴或不伴脑、眼、心的发育障碍 ·········64病例 9　RHOBTB2基因新发突变致发育性和癫痫性脑病 64型 ······················73病例10　 CHD2基因新发突变致癫痫伴肌阵挛 -失张力发作 ·························81病例11　以神经系统症状为首发表现的克氏综合征 ·····································89病例12　WES-CNV发现缺失变异致 16p11.2微缺失综合征 ························97病例13　 GAN基因突变致巨轴索性神经病 ··············································104附　录······························································································114