This area is reserved for registered medical professionals. If you are a medical professional, please register or login.

Recognising Hunter syndrome: the diagnosis and investigation

Continuing our series on rare diseases, Dr Aoibhinn Walsh and Dr Ellen Crushell of the National Centre for Inherited Metabolic Disorders, Temple St, examine how best to identify, investigate and treat Hunter syndrome. The mucopolysacch-aridoses (MPS) are a group of rare disorders that many doctors may not have encountered since preparing for medical exams. While most GPs and paediatricians have little, if any, regular exposure to affected children or young adults, it is the case however that MPS patients will initially present to a GP or paediatrician as their symptoms manifest. Awareness, therefore, of MPS as a possible underlying pathology…