Department of Pediatrics, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima 960-1295, Japan.
Eur J Pediatr. 2012 Mar;171(3):515-20. doi: 10.1007/s00431-011-1597-0. Epub 2011 Oct 7.
Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two brothers with Barth syndrome and left ventricular noncompaction (LVNC) caused by a splice donor mutation in TAZ. Both had impaired sucking ability at the age of 2 months. The elder brother was diagnosed with LVNC at the age of 4 months; by that time he had developed severe heart failure with metabolic decompensation. He died at 12 months of age due to intractable heart failure despite pharmacological therapy with diuretics, an angiotensin-converting enzyme inhibitor, and a beta-blocker. However, the younger brother, who was diagnosed as having Barth syndrome and LVNC with heart failure at the age of 2 months, received early medical treatment and demonstrated normal echocardiographic findings.
The clinical courses of Barth syndrome observed in our cases show the phonotypic variability of this syndrome and suggest that early therapy may be beneficial for maintaining cardiac function.
巴通体综合征是一种通常在婴儿期诊断出的 X 连锁疾病。其特征为张力减退、扩张型心肌病、中性粒细胞减少症、生长迟缓以及 3-甲基戊烯二酸尿症。该综合征通常由 TAZ（G4.5）基因突变引起，该基因突变会导致一种称为 tafazzin 的新型蛋白家族发生变化。我们报告了两例由 TAZ 的剪接供体位点突变引起的巴通体综合征伴左心室致密化不全（LVNC）的兄弟病例。他们均在 2 月龄时存在吸吮能力受损的情况。哥哥在 4 月龄时被诊断为 LVNC，此时他已出现严重的心力衰竭伴代谢失代偿。尽管他接受了利尿剂、血管紧张素转换酶抑制剂和β受体阻滞剂的药物治疗，但仍因难治性心力衰竭在 12 月龄时死亡。然而，弟弟在 2 月龄时被诊断为巴通体综合征伴心力衰竭并伴有 LVNC，他接受了早期的医疗治疗，且超声心动图检查结果正常。
我们观察到的这两个病例的巴通体综合征临床表现具有不同的表型，这表明早期治疗可能有益于维持心脏功能。
