Case Study: Russell

Russell was diagnosed with Hunter syndrome before his 3rd birthday, when he had already undergone two surgeries. At a young age he presented with an inguinal hernia,1 which after a period of watchful waiting was repaired. Russell suffered from chronic tonsillitis and recurrent ear infections;1 his doctor referred him to an ENT to try and establish and treat the cause.

The ENT physician eventually recommended a tonsillectomy.2 Russell’s physician kept track of his case and the combination of these symptoms and surgeries flagged to him the possibility of Hunter syndrome.2,3,4 Russell was referred to a clinical geneticist, who confirmed a diagnosis of Hunter syndrome.4

What are Russell’s key symptoms that may have indicated to the ENT doctor that he had Hunter syndrome (MPS II)?

  • A previously repaired hernia and a specific ENT surgical procedure2,3
    • Inguinal/abdominal hernia repair, adenoidectomy, tonsillectomy and tympanostomy are common surgical procedures in Hunter syndrome patients.2
  • Repeated ear and respiratory infections1,3
    • Frequent upper respiratory tract infections and recurrent ear infections occur in most patients with Hunter syndrome1
Hernia in a Hunter syndrome (MPS II) patient
Hernia repair
Ear Infections present in Hunter syndrome patient
Ear infections

What should doctors/caregivers look out for? Diagnostic indicators of Hunter syndrome (MPS II) in a patient <3 years old 3

  • Dysmorphic, coarse facial features
  • Hepatomegaly
  • Umbilical and inguinal hernia
  • Otitis media
  • Enlarged tonsils/adenoids
  • Nasal obstruction

*This is a hypothetical patient profile intended to represent a young patient with Hunter syndrome. Individual signs and symptoms may vary.

References:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.  2. Mendelsohn NJ et al. Genet Med 2010; 12(12): 816–822.  3. Wraith JE et al. Genet Med 2008; 10(7): 508–516.  4. Burton BK, Giugliani R. Eur J Pediatr 2012; 171(4): 631–639.

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