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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number209305
JournalBMJ Case Reports
Volume2015
DOIs
Publication statusPublished - 14-05-2015

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Mucopolysaccharidosis II
Dysostoses
Dermatan Sulfate
Hoarseness
Heparitin Sulfate
Enzyme Assays
Live Birth
Contracture
Glycosaminoglycans
Joints
X-Rays

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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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.",
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Hunter syndrome with late age of presentation : Clinical description of a case and review of the literature. / Gupta, Ashish; Uttarilli, Anusha; Dalal, Ashwin; Girisha, Katta M.

In: BMJ Case Reports, Vol. 2015, 209305, 14.05.2015.

Research output: Contribution to journalArticle

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