McCanta Anthony C, Chang Anthony C, Weiner Keith
Pediatric Cardiology, The Children's Hospital Denver, Denver, Colorado 80045-7106, USA.
Curr Opin Pediatr. 2008 Oct;20(5):605-7. doi: 10.1097/MOP.0b013e32830a990a.
A 17-month boy with history of neutropenia and gross motor regression was found to have cardiomyopathy upon admission. He was diagnosed with Barth syndrome: dilated cardiomyopathy, neutropenia, skeletal myopathy, decreased stature, and 3-methylglutaconic aciduria, confirmed by tafazzin gene deletion. This diagnosis should be considered in boys with unexplained neutropenia.
一名17个月大的男孩，有中性粒细胞减少症和粗大运动功能退化病史，入院时被发现患有心肌病。他被诊断为巴特综合征：扩张型心肌病、中性粒细胞减少症、骨骼肌病、身材矮小和3-甲基戊二酸尿症，tafazzin基因缺失确诊。对于原因不明的中性粒细胞减少症男孩应考虑这一诊断。
