探讨以心内膜弹力纤维增生症为主要表现的Barth综合征患儿的临床表现、诊断、治疗及TAZ基因突变情况。

选择2014年11月因"间断咳喘、发现心内膜弹力纤维增生症1个月"，于北京大学第一医院住院治疗的1例1岁7个月男性Barth综合征患儿为研究对象。对患儿进行血常规、生化(心肌酶谱等)、心血管功能检查，尿液有机酸谱分析、血液氨基酸及酯酰肉碱谱测定，检测患儿及其父母的基因突变情况。

①相关检测结果：本例患儿智力正常，体格及运动发育落后，肌张力低。血常规检测结果显示中性粒细胞减少及其百分率降低。超声心动图等结果显示左心室肥大，心肌肥厚，心功能不全。尿液3-甲基戊烯二酸显著增高，为241.34 mmol/mol肌酐(正常参考值为0～4.2 mmol/mol肌酐，均值为1.1 mmol/mol肌酐)，为正常均值的219.4倍。血液氨基酸谱正常，血浆游离肉碱浓度降低，为13 μmol/L(正常参考值为20～60 μmol/L)。基因检测结果显示，患儿存在TAZ基因c.280 C>T(p.R94C)突变，母亲为TAZ基因c.280 C>T杂合突变携带者。②临床治疗及预后：对本例患儿采取口服左卡尼汀、维生素B1、辅酶Q10、地高辛、酒石酸美托洛尔片等治疗后，患儿体力好转，尿液3-甲基戊烯二酸水平降至正常，心功能恢复正常。

Barth综合征为X连锁遗传性线粒体病，是导致心肌病的重要原因之一。尿液有机酸谱分析及TAZ基因检测，有助于该病的临床诊断及治疗。

To study the clinical manifestations, diagnosis, treatments and TAZ gene mutation of a child with endomyocardial fibroelastosis as the main manifestation of Barth syndrome.

We analyzed the clinical case history of an one-year and seven-month old boy with Barth syndrome, who visited Peking University First Hospital in November 2014.The chief complaint was " intermittent cough and dyspnea, detected endomyocardial fibroelastosis one month ago" . The blood routine and biochemical tests (myocardial enzymes determination, etc.), and cardiovascular function evaluation were performed to the child. The urine organic acids, blood amino acids and acylcarnitine profiles of the child, and genes of the child and his parents were analyzed.

① The child had normal intelligence with physical growth retardation, movement delay and muscle hypotonia. The blood routine showed neutropenia and neutrophil percentage decreased. Echocardiography showed left ventricular hypertrophy, cardiac hypertrophy and cardiac insufficiency. The urine 3-methyl-glutaconic acid was significantly increased of 241.34 mmol/mol of creatinine(normal value was 0-4.2 mmol/mol of creatinine, normal mean value was 1.1 mmol/mol of creatinine), which was 219.4 times of the normal mean value. The blood amino acids profiles was normal. Plasma free carnitine decreased to 13 μmol/L (normal value was 20-60 μmol/L). The TAZ gene test showed that the child presented c. 280 C>T (p.R94C) mutation. and his mother was heterozygous mutation carriers of c. 280 C>T (p.R94C) mutation . ②After oral medication of L-carnitine, vitamin B1, coenzyme Q10, digoxin, metoprolol tartrate, and other supporting treatment, the physical growth and movement improved, urine 3-methyl-glutaconic acid decreased to normal and heart function recovered to normal.

Barth syndrome is a X-link inherited mitochondrial diseases. It is an important cause of cardiomyopathy. Urine organic acids analysis and TAZ gene test contributed a lot to the clinical diagnosis and the treatment.