Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report

Abstract

Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatomegaly and at the age of four, an iduronate 2-sulfatase (IDS) gene analysis was performed and a mutation on the 3rd exon (c.262C>T, p.R88C) on the X chromosome was determined. Only four years after the diagnosis of Hunter syndrome, the boy begins to receive enzyme therapy - the drug Elaprase. During the period of receiving therapy, the boy's progression of the disease was significantly reduced.