title: Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
abstract: BACKGROUND
  Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could contribute to an increased morbidity as identified in this case report.
  
  
  METHODS
  An eight year old patient with Hunter's syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a strong clinical suspicion of Hunter's syndrome, as identified in the index case, is a prerequisite for enzyme activity testing. Urinary mucopolysaccharide(MPS) level was 69.6 mg/mmol(normal range is 0.0 - 11.6 mg/mmol), and the confirming MPS electrophoresis analysis showed elevated heparan sulphate in the urine sample. Enzyme activity testing, with absent or very low iduronate-2-sulfatase activity, is diagnostic. However, the scarce availability and high cost of these tests is another constraint in making a diagnosis.
  
  
  CONCLUSIONS
  Identification and management of mucopolysaccharidosis type II pose a problem in resource-constrained countries due to late presentation, lack of facility for diagnosis and treatment, cost and expertise required for the management.
authors.affiliation: Department of Paediatrics and Child Health, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: Ibraheem
authors.initials: I
authors.lastname: Rasheeedah
authors.affiliation: Department of Paediatrics and Child Health, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: Oladele
authors.initials: O
authors.lastname: Patrick
authors.affiliation: Department of Paediatrics and Child Health, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: AbdulAzeez
authors.initials: A
authors.lastname: Abdullateef
authors.affiliation: Department of Paediatrics and Child Health, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: Abdulkadri
authors.initials: A
authors.lastname: Mohammed
authors.affiliation: Department of Paediatrics and Child Health, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: Katibi
authors.initials: K
authors.lastname: Sherifat
authors.affiliation: Department of Surgery, University of Ilorin, Ilorin, Kwara, Nigeria.
authors.forename: Ibraheem
authors.initials: I
authors.lastname: Gbadebo
mesh_terms: D002648:Child; D003906:Developing Countries; D019468:Disease Management; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000628:therapy*
keywords: Hunter's syndrome; Mucopolysaccharide; Mucopolysaccharidosis