Joubert综合征并主动脉缩窄1例  

Joubert syndrome and aorta in one case

作　　者：高阳 乔衍礼[2] 陈庆伟 陈国庆[2] 颜磊 GAO Yang;QIAO Yanli;CHEN Qingwei;CHEN Guoqing(School of Clinical Medicine,Jining Medical University,Jining 272013,China;Affiliated Hospital of Jining Medical University,Jining 272029,China)

机构地区：[1]济宁医学院临床医学院,济宁272013 [2]济宁医学院附属医院,济宁272029

出　　处：《济宁医学院学报》2019年第4期261-263,共3页Journal of Jining Medical University

摘　　要：目的探讨Joubert综合征(Joubert syndrome,JS)的临床特点及对JS合并心脏畸形患者手术中所注意的事项,以提高对JS合并心脏畸形的认识和优化其治疗方式。方法报道2018年10月2日济宁医学院附属医院收治的1例JS合并主动脉缩窄的患儿临床资料及影像学特点,对该患儿进行了非停跳下主动脉缩窄矫治术。结果本例患儿检查心脏CT示主动脉缩窄,基因测序提示患儿及其母亲存在CSPP1基因两个杂合突变,为JS(基因型21型),结合患儿临床表现明确诊断为少见的JS合并心脏畸形的病例。通过手术治疗,患儿心内畸形得以纠正,目前生长发育良好。结论JS手术主要风险在于麻醉的诱导及术后呼吸道管理,此类患者可通过手术治疗,取得较好的预后。Objective To explore the Joubert syndrome(JS)of clinical characteristics and surgical patients with cardiac abnormalities of JS mergers in the matters for attention.In order to improve the understanding of JS combined cardiac abnormalities and optimization of the treatment.Methods We reported 1 case of JS with clinical data and imaging characteristics of the children in the Affiliated Hospital of Jining Medical University on October 2,2008.The child was carried out by correction coarction aorta without stopping blood flow.Results The case improved cardiac CT aorta.The gene sequencing suggested children and their mother existed two hybrid CSPP1 genemutations for JS(genotype type 21)combined with clinical diagnosis for rare JS merger cases of cardiac abnormalities.Rectified by surgical treatment,children with intracardiac malformation was in good growth and development.Conclusion The risk of JS surgery lies in the induction of anesthesia and the management of post-operation respiratory tract.Such children can be treated with surgery to obtain good prognosis.

关 键 词：JOUBERT综合征 主动脉缩窄 手术治疗 

分 类 号：R654[医药卫生—外科学]