Journals on Medical Drug and Theraputics

Abstract

#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.

For more articles on BJSTR Journals please click here: https://biomedres.us/

For more Medical Drug and Therapeutics Articles on BJSTR

https://biomedres.us/abstracts/BJSTR.MS.ID.001366.php

https://biomedres.us/fulltexts/BJSTR.MS.ID.001366.php

#Mucopolysaccharidoses1(MPS1): An Atypical presentation: A Clinical Case Report by Arindam Sur in BJSTR