Hunter syndrome is one of the mucopolysaccharidosis, which are a rare group of genetic diseases. It is due to a deficiency in the enzyme Iduronate 2-sulphatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulphate. The intra and extracellular accumulation of this substances lead to multisystemic organ abnormality. We present a patient with Hunter syndrome who presented with involvement of the skin, cardiovascular system, the eyes and musculoskeletal system. We have also included a literature review. As far as we know, it is the first case reported in a Nigerian.

Download full-text PDF

Source
http://dx.doi.org/10.4314/wajm.v25i2.28272DOI Listing

Publication Analysis

Top Keywords

hunter syndrome
12
syndrome case
4
case report
4
report review
4
review literature
4
literature hunter
4
syndrome mucopolysaccharidosis
4
mucopolysaccharidosis rare
4
rare group
4
group genetic
4

Similar Publications

Background: Hypomethylating agents (HMA), such as azacytidine (AZA) and decitabine (DAC), are epigenetic therapies used to treat some patients with acute myeloid leukaemia (AML) and myelodysplastic syndrome. HMAs act in a replication-dependent manner to remove DNA methylation from the genome. However, AML cells targeted by HMA therapy are often quiescent within the bone marrow, where oxygen levels are low.

View Article and Find Full Text PDF

Background: Coronary heart disease (CHD) remains a leading cause of mortality and disability worldwide. Approximately half of the patients who have had a prior hospital admission for CHD will have a recurrent coronary event, with the majority of these occurring within 12 months. Despite well-established evidence-based therapies, medication non-adherence is highly prevalent and reasons for medication non-adherence are poorly understood.

View Article and Find Full Text PDF

Background: Iduronate-2-sulfatase (IDS) deficiency (MPS II; Hunter syndrome) is a disorder that exhibits peripheral and CNS pathology. The blood brain barrier (BBB) prevents systemic enzyme replacement therapy (ERT) from alleviating CNS pathology. We aimed to enable brain delivery of systemic ERT by using molecular BBB-Trojans targeting endothelial transcytosis receptors.

View Article and Find Full Text PDF

Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!