斯利病：黏多糖贮积症VII型
Sly Disease: Mucopolysaccharidosis Type VII.
作者信息
Nampoothiri Sheela, Kappanayil Mahesh, Hiran K R, Sunitha V
机构信息
Department of Pediatric Genetics,Pediatric Cardiology, and Pathology, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026,Kerala, India.
出版信息
Indian Pediatr. 2008 Oct;45(10):859-61.
PMID:18948660
Abstract
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
摘要
一名6个月大的婴儿因严重二尖瓣反流就诊，检查发现有肝脾肿大、角膜混浊，白细胞中有阿尔德-赖利颗粒。极低水平的β-葡萄糖醛酸酶确诊为斯利病（黏多糖贮积症VII型）。这是印度报道的首例黏多糖贮积症VII型病例。
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