Barth综合征1例临床及基因突变分析

Clinical manifestation and gene mutation analysis of Barth syndrome in a child

目的探讨Barth综合征(BTHS)的临床表现及遗传学特征。方法回顾分析1例BTHS患儿的临床资料。结果患儿,男,10月龄,以左室增大,爆发性心肌炎,心力衰竭,肌无力,单核细胞增多,低血糖,乳酸性酸中毒,腹泻,面部异常等为主要表现。基因测序显示TAZ基因存在一个错义突变(c.406 C>T,p.Cys 136 Arg),突变来自患儿母亲。结论扩充了中国BTHS的基因突变谱及临床特征。

Objective To explore the clinical manifestations and genetic characteristics of Barth syndrome(BTHS).Method The clinical data of BTHS in a child were retrospectively analyzed.Results A 10-month-old boy had the main manifestations of left ventricular enlargement,fulminant myocarditis,heart failure,muscle weakness,mononucleosis,hypoglycemia,lactic acidosis,diarrhea and facial abnormalities.Gene sequencing revealed a missense mutation in TAZ gene(c.406C>T,p.Cys136Arg),which came from his mother.Conclusion The gene mutation spectrum and clinical characteristics of BTHS in China were expanded.