HUNTER SYNDROME (MPS TYPE II) : A RARE CLINICAL ENTITY
Journal Title: International Journal Of Medical Case Reports - Year 2016, Vol 2, Issue 3
Abstract
ABSTRACT Mucopolysaccharidosis (MPS) is an inherited lysosomal storage disorder which constitutes a group of heterogeneous disorders that occur due to complete or partial absence of enzymes that breakdown the mucopolysaccharides into simpler forms, this leads to progressive accumulation of glycosaminoglycans (previously called mucopolysaccharides ) in nearly all cell types, tissues and organs. Clinical manifestations include skeletal deformities, organomegaly, cardiomyopathy, severe airway obstruction and, in most patients, neurological decline. We report this case of MPS type II because of its rarity and to highlight the distinctive clinical and radiological features of Hunter syndrome.
Authors and Affiliations
A R Rajan, Vikram Singh, Anupama A Bhave, Manish Saha, Arindam Chatterjee
Keywords
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- EP ID EP177712
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