Fong L V, Menahem S, Wraith J E, Chow C W
Clin Cardiol. 1987 Jun;10(6):362-4. doi: 10.1002/clc.4960100612.
This case report describes two siblings less than 1 year of age who presented severely ill with a dilated cardiomyopathy. Full blood examination in both cases revealed marked granularity of neutrophils suggestive of mucopolysaccharidosis type VI. There were no physical features of a mucopolysaccharidosis but biochemical evaluation confirmed mucopolysaccharidosis type VI in both children. Autopsy in one patient confirmed endocardial fibroelastosis and electron microscopy of fibroblasts in the myocardium showed distention with membrane-bound vacuoles, consistent with a mucopolysaccharidosis. These siblings developed endocardial fibroelastosis before other clinical manifestations of the mucopolysaccharidosis. Assessment for metabolic causes of a cardiomyopathy is important, as cardiac disease may be the initial manifestation of a metabolic disease.
本病例报告描述了两名不满1岁的患有扩张型心肌病的患病同胞。两例患者的全血细胞检查均显示中性粒细胞明显颗粒化，提示为VI型黏多糖贮积症。两例患者均无黏多糖贮积症的体征，但生化评估确诊两名儿童均患有VI型黏多糖贮积症。其中一名患者的尸检证实存在心内膜弹力纤维增生症，心肌成纤维细胞的电子显微镜检查显示细胞肿胀并伴有膜结合空泡，符合黏多糖贮积症的表现。这些同胞在黏多糖贮积症的其他临床表现出现之前就已发生心内膜弹力纤维增生症。评估心肌病的代谢病因很重要，因为心脏疾病可能是代谢性疾病的首发表现。
