Hunter syndrome revisited

Abstract

Hunter syndrome is the type II of mucopolysaccharidose. With impaired glycosaminoglycan catabolism, heparan and dermatan sulfate accumulate in lysosomes. Multiple organ dysfunction is a consequence of this effect. We present the case of a a 9 year-old boy was refered to our department for breathing difficulties, discussing the diagnosis and treatment challenges of the case.

Keywords

• hunter syndrome
• mucopolysaccharidose
• glycosaminoglycan