Maroteaux-Lamy Syndrome

被引：5
|
作者：
Lakhotia S. [1 ]
Sharma A. [2 ,3 ]
Shrivastava G.P. [1 ]
Jain S.K. [2 ]
机构：
[1] Department of Surgery, S.S. Medical College, Associated G.M. And S.G.M. Hospitals, Rewa, Madhya Pradesh
[2] Department of Pathology, S.S. Medical College, Associated G.M. and S.G.M. Hospitals, Rewa, Madhya Pradesh
[3] Surya Apartments, Sector-13, Rohini
来源：
The Indian Journal of Pediatrics | 2004年 / 71卷 / 10期
关键词：
Alder-Rilley anomaly; Aryl-Sulfatase-B; Corneal clouding; Dysostosis multiplex; Mucopolysaccaridoses;
D O I：
10.1007/BF02830840
中图分类号：
学科分类号：
摘要：
Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.
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收藏
页码：933 / 935
页数：2
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