Hunter syndrome with late age of presentation: Clinical description of a case and review of the literature

Ashish Gupta, Anusha Uttarilli, Ashwin Dalal, Katta M. Girisha

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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.

Original languageEnglish
Article number209305
JournalBMJ Case Reports
Publication statusPublished - 14-05-2015


All Science Journal Classification (ASJC) codes

  • Medicine(all)

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