Challenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report.

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dc.contributor.authorIbraheem, Rasheedat
dc.contributor.authorOladele, Patrick
dc.contributor.authorAbdulazeez, A
dc.contributor.authorAbdulkadir, M
dc.contributor.authorKatibi, S
dc.contributor.authorIbraheem, G
dc.date.accessioned2018-06-19T11:04:50Z
dc.date.available2018-06-19T11:04:50Z
dc.date.issued2015-07
dc.description.abstractBACKGROUND: 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.en_US
dc.identifier.citationIbraheem, R., Oladele, P., Abdulazeez, A., Abdulkadir, M.B., Katibi, S. & Ibraheem, G. (2015): Challenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report. Ethiopian Journal of Health Sciences. 25(3); 279-282en_US
dc.identifier.urihttp://dx.doi.org/10.4314/ejhs.v25i3.12
dc.identifier.urihttp://hdl.handle.net/123456789/521
dc.language.isoenen_US
dc.publisherCollege of Health Sciences, Jimma University, Ethiopiaen_US
dc.subjectHunter's syndrome;en_US
dc.subjectMucopolysaccharide;en_US
dc.subjectMucopolysaccharidosisen_US
dc.titleChallenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report.en_US
dc.typeArticleen_US

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