PLA2G6基因纯合突变致婴儿神经轴索营养不良1例报告.docVIP

PLA2G6基因纯合突变致婴儿神经轴索营养不良1例报告 卢洪珠 陈荣 陈燕惠 福建医科大学附属协和医院儿科 X 关注成功！ 加关注后您将方便地在 我的关注中得到本文献的被引频次变化的通知！ 新浪微博 腾讯微博 人人网 开心网 豆瓣网 网易微博 摘????要： 目的 探讨婴儿神经轴索营养不良的临床特征和PLA2G6基因突变特点。方法 回顾分析1例婴儿神经轴索营养不良患儿的临床资料。结果 患儿, 男, 2岁, 主要临床表现为行走、语言倒退, 肌张力减低。血清总铁结合力稍低, 天冬氨酸氨基转移酶和乳酸脱氢酶升高;肌电图检查示上下肢神经源性损害;彩色多普勒超声心动图、视频脑电图、颅脑磁共振均未见明显异常。基因检查结果提示患儿PLA2G6纯合突变c.1077GA, 其父母该位点均为杂合突变。结论 PLA2G6基因突变导致婴儿神经轴索营养不良。 关键词： 神经轴索营养不良; PLA2G6基因; 婴儿; 作者简介：陈燕惠, 电子信箱:yanhui_0655@126.com 收稿日期：2017-04-01 A homozygous mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy: a case report LU Hongzhu CHEN Rong CHEN Yanhui Department of Pediatrics, Union Hospital Affiliated to Fujian Medical University; Abstract： Objective To explore the clinical and the genetic features of infantile neuroaxonal dystrophy (INAD) . Methods The clinical and laboratory data, neuroimaging examination and genetic testing results of one child with INAD were retrospectively analyzed. Results A 2 years old boy presented motor and verbal dexterity regression and hypotonia. Laboratory findings revealed decreased total iron-binding capacity in serum with increased glutamic oxaloacetic transaminase (AST) and lactic dehydrogenase (LDH) . Myoelectrography showed neurogenic impairments of the arms and legs, and the color doppler ultrasound of the heart, video-EEG and brain MRI results were normal. A homozygous mutation of c. 1077 GA was found in PLA2G6 gene of the infant. The infants parents were heterozygous mutation carriers at this locus. Conclusions PLA2G6 gene mutations cause INAD. Keyword： infantile neuroaxonal dystrophy; PLA2G6 gene; infant; Received： 2017-04-01 婴儿神经轴索营养不良 (infantile neuroaxonal dystrophy, INAD) 是一种罕见的神经退行性病变, 以运动和认知进行性倒退、肌张力减低为特征。INAD为常染色体隐性遗传病, 与PLA2G6基因突变有关, 患儿于3岁前起病, 多在10岁前死亡[1,2]。由于疾病早期缺乏典型的临床表现, 诊断较困难。现回顾分析1例PLA 2 G 6基因突变的INAD患儿临床资料和基因检测结果, 以提高临床医师的认识。 1临床资料 患儿, 男, 2岁。因“行走、语言倒退近1年”, 于2016年12月29日入院。入院前1年发现患儿行走步态异常、速度减慢, 独走及独站片刻会摔倒, 并发现患儿学语缓慢, 语言减少, 从“yi-ya”到学“ba-ba”、“mama”发音后未再学会新的词汇。无抽搐, 无纳差, 无呕吐、腹泻, 无黄