A Rare Case of Mucopolysaccharidosis: Hunter Syndrome
Correspondence Address :
Dr. Deepa Narayanan C,
Deepam, Chirakkara, Tellicherry, Kannur, Kerala-670104, India.
E-mail: deepabiju85@gmail.com.
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder.
Coarse facial features, Delayed eruption, Macroglossia
DOI: 10.7860/JCDR/2015/13251.5858
Date of Submission: Jan 09, 2015
Date of Peer Review: Mar 12, 2015
Date of Acceptance: Mar 26, 2015
Date of Publishing: Apr 01, 2015
Financial OR OTHER COMPETING INTERESTS: None.
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