Common clinical symptoms of Hunter syndrome that ENT specialists will encounter include: frequent hearing loss (due to otitis media or other conductive impairment or sensorineural degeneration); breathing and chewing/swallowing difficulties and obstructive sleep apnoea due to respiratory obstructions (enlarged tonsils and adenoids, nasal obstructions); skeletal deformities; and abdominal distension.1,2
Otological and audiological evaluations performed every 6–12 months can be used to monitor hearing loss, while a diagnosis of the airway obstructions requires a comprehensive evaluation of the medical history of the patient, a current physical examination and imaging procedures. Pulmonary function can be tested using spirometry, and an overnight sleep study, conducted at a hospital or at home, can be used to evaluate the severity of obstructive sleep apnoea. For a more detailed assessment, a bronchoscopy can be used to evaluate respiratory involvement with a rigid bronchoscope and a flexible bronchoscope.1,2
As a paediatric otolaryngologist I think that frequently we’re the first line of seeing patients that have syndromes. Many times, we’re in a position, because we’re examining the head and neck in detail, day-in and day-out in children, we’re able to take in nuances that sometimes the paediatrician may overlook
- Dr David Karas
Managing airway problems in Hunter syndrome patients often involves surgery, but preparation is crucial: patients should be assessed by a multidisciplinary team that includes a cardiologist, an ENT specialist and an anaesthetist with experience in MPS diseases before any surgical procedure. However, due to the progressive nature of airway involvement, surgery may only provide a temporary solution and continual monitoring is important.2
- Muenzer J et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124(6): e1228–e1239.
- Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72.