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.

Figure 1

The patient demonstrated coarse facial features (A), claw hand deformity due to contractures (B), protuberant abdomen with umbilical hernia (C), vertebral dysplasia mainly affecting L2 (D), broad ribs (E) and comma-shaped pelvic bone (F). Electropherogram shows substitution (G).