Mucopolysachharidosis-II: A Rare Case Report

Authors

  • Kalgi Baxi GCS medical college ahmedabad, Gujarat
  • Ashish Jagati Shardaben hospital and NHL medical college Ahmedabad, Gujarat
  • Pooja Agarwal Shardaben Hospital,NHL medical hospital, Ahmedabad, Gujurat

DOI:

https://doi.org/10.3126/njdvl.v18i1.25996

Keywords:

Glycosaminoglycans, Iduronic Acid, Lysosomes, Mucopolysaccharidosis II

Abstract

Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.

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Author Biographies

Kalgi Baxi, GCS medical college ahmedabad, Gujarat

Senior resident

Department of Dermatology

 

Ashish Jagati, Shardaben hospital and NHL medical college Ahmedabad, Gujarat

Associate Professor,

Department of Dermatology

Pooja Agarwal, Shardaben Hospital,NHL medical hospital, Ahmedabad, Gujurat

Assistant Professor,

Department of Dermatology,

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Published

2020-10-08

How to Cite

Baxi, K., Jagati, A., & Agarwal, P. (2020). Mucopolysachharidosis-II: A Rare Case Report. Nepal Journal of Dermatology, Venereology &Amp; Leprology, 18(1), 80–82. https://doi.org/10.3126/njdvl.v18i1.25996

Issue

Section

Case Reports