Hunter syndrome: case report and review of literature.
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.
Ogunbiyi
Adebola
A
Department of Medicine, University College Hospital, Ibadan.
Adeyinka
A O
AO
Ogah
S O
SO
Baiyeroju
A M
AM
D000293:Adolescent; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*