Title: Mucopolysaccharidosis Type II (Hunter’s Syndrome)-A Clinical Case Report
Authors: Dr Anand Koppad, Dr Akshatha K, Dr Triveni A
DOI: https://dx.doi.org/10.18535/jmscr/v6i6.145
Abstract
The Mucopolysaccharidosis (MPS) are inherited lysosomal disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multiorgan system dysfunction. We report a rare case of Hunter syndrome-mucopolysacchordosis type II (MPS II) with clinical features including facial dysmorphism, hepatoslenomegaly, joint stiffness and contractures, mild mental retardation, valvular dysfunction.
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