Mucopolysaccharidosis type II (Hunter syndrome) – A case report

Authors

  • Agrawal Amit
  • Shrivastava Jyotsna

DOI:

https://doi.org/10.32677/IJCR.2015.v01.i01.010

Keywords:

Facial Dysmorphism, Hunter Syndrome, Mucopolysaccharidosis, Short Stature

Abstract

Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a defect in the
metabolism of glycosaminoglycans (GAGs). We present a rare case of MPS with a typical presentation of coarse facies, short stature, mild mental retardation and absence of corneal clouding. His radiographic findings were suggestive of MPS and diagnosis was confirmed by demonstrating deficient Iduronate-2-sulphatase enzyme in plasma. We present this case to highlight the distinctive manifestations as well as radiological and definitive diagnostic findings of the Hunter syndrome.

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Published

2015-03-25

Issue

Section

Case Report

How to Cite

Mucopolysaccharidosis type II (Hunter syndrome) – A case report. (2015). Indian Journal of Case Reports, 1(1), 31-34. https://doi.org/10.32677/IJCR.2015.v01.i01.010

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