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

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 multisy...

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Bibliographic Details
Published in:BMJ case reports 2015-05, Vol.2015, p.bcr2015209305
Main Authors: Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
Format: Article
Language:English
Subjects:
Adult
Age
Age of Onset
Airway management
Asia
Electrocardiography
Enzyme Replacement Therapy - methods
Enzymes
Families & family life
Genotype & phenotype
Hoarseness - diagnosis
Hoarseness - genetics
Humans
Iduronate Sulfatase - administration & dosage
Indian Sub-Continent
Infusions, Intravenous
Intellectual disabilities
Literature reviews
Male
Medical screening
Mucopolysaccharidosis II - diagnosis
Mucopolysaccharidosis II - drug therapy
Mucopolysaccharidosis II - physiopathology
Mutation
Patients
Rare Disease
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Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2015-209305