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
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
- 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.