Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. (14th May 2015)

• Record Type: Journal Article
• Authors: Gupta, Ashish; Uttarilli, Anusha; Dalal, Ashwin; Girisha, Katta M
• Is Part Of: BMJ case reports. Volume 2015
• Publication Date: 2015-05-14
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2015-209305
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Hunter syndrome is an X linked recessive mucopolysaccharidosis (type II) caused by the deficiency of iduronate 2-sulfatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances lead to multisystemic organ abnormality. It is a rare syndrome with a very low prevalence of 1.3:100 000 male live births. Usual presentation is in early childhood although milder variants have been documented to present at a later age. We present a rare case of Hunter syndrome in a 24-year-old male patient who presented with joint contractures and recent onset hoarseness of voice. X-rays were suggestive of dysostosis multiplex. Clinical diagnosis of Hunter syndrome was confirmed by enzyme assay and further by mutational analysis.