目的：探讨Barth综合征(BTHS)的临床表现、诊断、治疗及转归。方法回顾性分析2013年6月至2014年10月经基因检测确诊的3例BTHS患儿的临床资料。结果3例患儿均为男性，其中2例为双胞胎。3例患儿均以心肌病和心功能不全为主要表现，同时合并不同程度的左室心肌疏松，其中2例诊断为左室心肌致密化不全(LVNC)；3例患儿均有运动发育迟缓和肌无力表现，生长发育落后；尿液3-甲基戊烯二酸(3-MGCA)水平显著增高，其中1例合并中性粒细胞减少；3例患儿均检测到TAZ基因突变，2例双胞胎患儿检测到1个新的错义突变c.527A＞G(p.H176R)，另外1例患儿检测到1个已知的无义突变c.367C＞T(p.R123X)，突变均来源于患儿母亲。随访过程中2例双胞胎分别于生后7个月和7个半月死亡，另1例目前存活。结论 BTHS是引起儿童心肌病的原因之一，对于合并有肌无力、中性粒细胞减少、3-甲基戊烯二酸尿症等表现的男性心肌病患儿，尤其是合并LVNC时，需要重视BTHS的筛查。%ObjectiveTo explore the clinical presentation, diagnosis, treatment, and outcome of the Barth syndrome (BTHS).MethodsClinical data were collected and analyzed from 3 patients with conifrmed genetic diagnosis of BTHS from June 2013 to October 2014.ResultsAll of the 3 patients were males and two of them were twins. The main clinical manifes-tations of the 3 patients were cardiomyopathy and heart failure, accompanied by different degrees of trabeculations of the left ventricle. Two of them were diagnosed of left ventricular noncompaction (LVNC). All of the 3 patients presented with motor retardation, muscle weakness, growth delay and signiifcantly increased urinary excretion of 3-methylglutaconic acid (3-MGC). One patient was found to have neutropenia. All 3 patients hadTAZ gene mutations which included a novel missense mutation (c.527A>G, p.H176R) detected in the twins and a known nonsense mutation (c.367C>T, p.R123X) identiifed in the other patient. All of the mutations were inherited from their mothers. During the follow-up, the twins died at 7 months old and 7.5 months old respectively. The other patient was still alive.ConclusionBTHS is one of the causes of cardiomyopathy in children. In the male patients who presented with muscle weakness, neutropenia, and increased urinary excretion of 3-MGC, especially in those com-bined with LVNC, BTHS should be screened.
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