title: Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
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.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India.
authors.forename: Ashish
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Diagnostics Division, Center for DNA Finger Printing and Diagnostics, Hyderabad, India Graduate Studies, Manipal University, Manipal, Udupi, Karnataka, India.
authors.forename: Anusha
authors.initials: A
authors.lastname: Uttarilli
authors.affiliation: Diagnostics Division, Center for DNA Finger Printing and Diagnostics, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000328:Adult; D017668:Age of Onset; D004562:Electrocardiography; D056947:Enzyme Replacement Therapy / Q000379:methods*; D006685:Hoarseness / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000008:administration & dosage*; D007262:Infusions, Intravenous; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology
chemical_list: D007066:Iduronate Sulfatase