Suspicion of Hunter syndrome

It can be very challenging to diagnose Hunter syndrome, because many of the early symptoms overlap with common childhood complaints. This can lead to repeated misdiagnosis, and a delay to proper management of the condition.1

Suspicion of Hunter syndrome should arise if symptoms such as otitis media and enlarged tonsils/adenoids occur repeatedly, and in combination with more specific features of Hunter syndrome such as abdominal hernias, an enlarged tongue, and a large head circumference. It’s important then to evaluate the patient’s medical history more thoroughly, to check if there were common Hunter syndrome symptom clusters that previously went unnoticed.1

If you suspect Hunter syndrome, you can then conduct a physical examination for current joint stiffness, enlarged abdomen, and the other non-neuronopathic symptoms of the disease. In older children you can assess for cardiac problems but also, regardless of age, take a step back and look for the characteristic facial features of Hunter syndrome.1

If you suspect Hunter syndrome:   REFER TO A SPECIALIST TODAY
Learn more about the specialist multidisciplinary management of Hunter syndrome patients

There are several stages in diagnosing the Hunter syndrome patient.


URINARY GAGS Abnormal GAG pattern Differential diagnosis Multiple sulfatase deficiency Mutation identification Multiple sulfatase deficiency Genetic counselling I2S enzyme Normal GAG pattern Other LSD Review data Continue investigation Return to GAG testing Other LSD

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