Early Signs and Symptoms of Hunter Syndrome
Hunter syndrome can be very difficult to diagnose because of the variation in presentation, the insidious onset, and the overlap in signs and symptoms with common childhood complaints. 1
There are a number of signs and symptoms of Hunter syndrome (MPS II) that occur early in the disease course. The presence of several of the following ‘red flags’ should prompt diagnostic investigation into Hunter syndrome:
The multisystemic nature of Hunter syndrome highlights the need for management from a multidisciplinary team.1
1. Burton BK, Giugliani R. Eur J Pediatr. 2012;171(4):631-639. 2. Scarpa M et al. Orphanet J Rare Dis. 2011;6:72. 3. Martin R et al. Pediatrics. 2008;121(2): e377-e386. 4. Wraith JE et al. Genet Med. 2008;10(7): 508-516. 5. Mendelsohn NJ et al. Genet Med. 2010;12(12):816-822. 6. Keilmann A et al. Inherit Metab Dis. 2012;35(2):343-353.
Hunter syndrome is a
progressive genetic disease
If you suspect Hunter syndrome, refer your patient to a metabolic geneticist for an accurate diagnosis.