| Affiliation: | (1) Departments of Pathology, S.S. Medical College & Associated G.M. And S.G.M. Hospitals, Rewa, Madhya Pradesh, India;(2) Departments of Surgery, S.S. Medical College & Associated G.M. And S.G.M. Hospitals, Rewa, Madhya Pradesh, India;(3) 34-B, Surya Apartments, Plot No. 21, Sector-13, Rohini, 110 085 Delhi, India |
| Abstract: | 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. |
