A Family with Mucopolysaccharidosis Type IV-Morquio Syndrome | [Pakistan Paediatric Journal • 2013]

Author(s):

1. ANITA LAMICHHANE: Department of Pediatrics, Shaikh Zayed Hospital, Lahore, Pakistan

2. WAQAR HUSSAIN: Department of Pediatrics, Shaikh Zayed Hospital, Lahore, Pakistan

3. MOHAMMAD ASLAM: Department of Pediatrics, Shaikh Zayed Hospital, Lahore, Pakistan,

Abstract:

Morquio syndrome is a rare genetic disorder caused by the lack of enzyme responsible for the breakdown of the mucopolysaccharide keratin sulphate which causes accumulation of glycosaminoglycans in various body tissues. Keeping in mind, this rare disease, we report two siblings from the same family with characteristics clinical as well as radiological features of this disorder.

Page(s): 55-57

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 37, Issue: 1, Year: 2013

Keywords:

Glysoaminoglycans GAGS , Morquio syndrome , Mucopolysaccharidosis MPS

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