Stephan M J, Stevens E L, Wenstrup R J, Greenberg C R, Gritter H L, Hodges G F, Guller B
Department of Pediatrics, Madigan Army Medical Center, Tacoma, Wash 98431.
Am J Dis Child. 1989 Jul;143(7):782-4. doi: 10.1001/archpedi.1989.02150190032015.
We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed alpha-L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed alpha-L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants. We propose that the ventricular mural accumulation of mucopolysaccharides induced extensive proliferation of elastic or collagen fibers within the endocardium. Cardiac failure may precede recognition of clinical and roentgenographic features of Hurler syndrome. Our findings and a literature review suggest that certain heritable storage disorders, including mucopolysaccharidosis I, should be considered when infants have clinical electrocardiographic and echocardiographic findings consistent with endocardial fibroelastosis or have autopsy-documented endocardial fibroelastosis.
我们描述了两名患有Hurler综合征（黏多糖贮积症I型）的女婴，她们均死于心力衰竭，尸检证实伴有心内膜弹力纤维增生症。一名婴儿在培养的皮肤成纤维细胞中确诊存在α-L-艾杜糖醛酸酶缺乏，另一名婴儿在尸检时有组织黏多糖蓄积的组织学证据，且其一名同胞确诊存在α-L-艾杜糖醛酸酶缺乏及Hurler综合征表型。在两名婴儿的心肌和心内膜中均发现了透明细胞（“Hurler”细胞）。我们认为，心室内壁黏多糖的蓄积会导致心内膜内弹性纤维或胶原纤维广泛增生。心力衰竭可能在Hurler综合征的临床和X线特征被识别之前出现。我们的研究结果及文献综述表明，当婴儿出现与心内膜弹力纤维增生症相符的临床心电图和超声心动图表现，或尸检记录有心内膜弹力纤维增生症时，应考虑某些遗传性贮积病，包括黏多糖贮积症I型。
