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.

CASE DETAILS:

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.

CONCLUSION:

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: Ibraheem Rasheeedah, Oladele Patrick, AbdulAzeez Abdullateef, Abdulkadri Mohammed, Katibi Sherifat, Ibraheem Gbadebo
• Journal: Ethiopian journal of health sciences (Ethiop J Health Sci) Vol. 25 Issue 3 Pg. 279-82 (Jul 2015) ISSN: 2413-7170 [Electronic] Ethiopia
• PMID: 26633932 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Developing Countries
• Disease Management
• Humans
• Male
• Mucopolysaccharidosis II (therapy)