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Case ReportOpen Access

Mucopolysaccharidoses1(MPS1): An Atypical presentation: A Clinical Case Report

Volume 6 - Issue 3

Arindam Sur*, Sayari Banerjee and Jayati Roy Choudhury

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    • Demonstrator, College of Medicine &Sagore Dutta Hospital, India

    *Corresponding author: Arindam Sur, Demonstrator, College of Medicine & Sagore Dutta Hospital, Sodepur, West Bengal, Pin: 700113, India

Received: June 24, 2018;   Published: July 09, 2018

DOI: 10.26717/BJSTR.2018.06.001366

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Mucopolysaccharidoses (MPS) are hereditary diseases caused by mutations of genes coding for lysosomal enzymes needed to degrade glycosaminoglycans (GAG) leading to progressive accumulation of glycosaminoglycans in various organs. The patients often present with clinical features like coarse facies, organomegaly, dysostosis multiplex, developmental delay and abnormalities in vision or hearing. Incidence of mucopolysaccharoidosis is 1 in every 100,000 live births. Until date, very few such cases has been reported worldwide. We hereby report a rare case of mucopolysaccharoidosis 1admitted in hospital with atypical presentation (fever, convulsion and rash) and diagnosed by presence of coarse facial features, bullet shaped phalanges in x ray of hand, presence of GAGSin urine examination and confirmed by enzyme assayin a tertiary care hospital in West Bengal.

Keywords: Mucopolysaccharoidosis; Glycosaminoglycan;Coarse Facies

Abstract| Introduction| Case Presentation| Discussion| References|