Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

ABSTRACT:

Background

Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 12 cases of the disease in females are known due to structural anomalies, a non-random chromosome X inactivation or chromosome X monosomy. The purpose of this article is to demonstrate a rare case of Hunter syndrome in a girl caused by a mutation in the IDS gene inherited from the mother and the presence of chromosome X of paternal origin, partially deleted in the long arm region - 46,X,del(X)(q22.1).

Case presentation

Girl M., 4 years old, entered the hospital with growth retardation, pain

SUBMITTER: Semyachkina AN 

PROVIDER: S-EPMC6498611 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature