title: Hunter syndrome: case report and review of literature.
abstract: Hunter syndrome is one of the mucopolysaccharidosis, which are a rare group of genetic diseases. It is due to a deficiency in the enzyme Iduronate 2-sulphatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulphate. The intra and extracellular accumulation of this substances lead to multisystemic organ abnormality. We present a patient with Hunter syndrome who presented with involvement of the skin, cardiovascular system, the eyes and musculoskeletal system. We have also included a literature review. As far as we know, it is the first case reported in a Nigerian.
authors.affiliation: Department of Medicine, University College Hospital, Ibadan.
authors.forename: Adebola
authors.initials: A
authors.lastname: Ogunbiyi
authors.forename: A O
authors.initials: AO
authors.lastname: Adeyinka
authors.forename: S O
authors.initials: SO
authors.lastname: Ogah
authors.forename: A M
authors.initials: AM
authors.lastname: Baiyeroju
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*