Diagnosis of Hunter Syndrome (Mucopolysaccharidosis Type II) in a Resource­ Limited Setting: A Case Report from Zambia

Abstract

Abstract

Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It is a rare genetic disorder due to a deficiency in the enzyme Iduronate 2-sulphatase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly and extracellularly, leading to abnormalities in different organ systems in the body. The definitive diagnosis of Hunter syndrome requires biochemical methods which can be a challenge in resource-limited settings, Zambia included.  Presented here is a case of Hunter Syndrome in a 12-year-old male child and highlight clinical acumen as the main ingredient in making the diagnosis and distinguishing different types.