Due to the non-specific and relatively common nature of some of the signs and symptoms, identifying and diagnosing patients early in the disease pathway can be problematic.1 In cases where there is no family history of the condition, the delay between symptom presentation and diagnosis can be substantial.2 The initial suspicion of Hunter syndrome commonly arises due to the observation of the characteristic facial features during examination for other issues.2

Hunter syndrome (MPS II) diagnostic pathway3

Adapted from Burton BK and Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 2012; 171(4): 631-9. Copyright the authors 2012.

Importance of early identification

Early recognition and diagnosis of Hunter syndrome are important to optimize management of the disease.4 In addition, a positive diagnosis of Hunter syndrome can allow for appropriate precautions to be taken during surgical procedures due to some of the clinical features of the disease, such as short neck, immobile jaw, and pathological changes in the upper airways.1

Suspect? Refer.

If you suspect Hunter syndrome, refer your patient to a medical geneticist for an accurate diagnosis.

References:  1. Scarpa M et al. Orphanet J Rare Dis 2011; 6: 72.  2. Martin R et al. Pediatrics 2008; 121(2): e377–386.  3. Burton BK, Giugliani R. Eur J Pediatr 2012; 171(4): 631–639.  4. Mendelsohn NJ et al. Genet Med 2010; 12(12): 816–822.  5. Muenzer J et al. Pediatrics 2009; 124(6): e1228–1239.

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