Skip to main content
. 2014 Jun;37(2):315–329. doi: 10.1590/s1415-47572014000300003

Table 2.

Suggested evaluations for patients with Hunter syndrome. Adapted from (Wraith et al., 2008b; Muenzer et al., 2009; Guelbert et al., 2011).

Organ System/involvement Assessment Frequency recommendationa
Neurological
  General

  • Neurophysiologic exams

  • EEG

 Yearly
  Hydrocephalus

  • MRI/CT of the head +/− gadolinium

  • LP measurement of CSF pressure

 Every 1–3 years
  Spinal cord compression

  • MRI cervical spine

 Every 1–3 years
  Atlantoaxial instability

  • Cervical spine flexion/extension

 Every 2–3 years, and before general anesthesia
  Progressive cognitive involvement

  • Neurobehavioral

 Yearly
  Carpal tunnel syndrome

  • Nerve conduction

 At 4–5 years old, then at 1- or 2-year intervals

  • Hand function tests

 Yearly
Cardiovascular
  Myocardiopathy

  • ECHO/ECG

 Yearly
  Valvular dysfunction

  • Holter (conduction irregularities)
Auditory

  • Otologic and audiologic

  • Audiometry

  • Phonoaudiology

 Every 6–12 mo
Respiratory
  • Pulmonary function
    • ○ Chest x-ray
    • ○ Oxygen saturation
    • ○ Sleep study to detect OSA
    • ○ 6MWT
    • ○ 3-minute stair climbing test
 Upon diagnosis or when patient is old enough to cooperate, then yearly

  • Sleep study

 Every 3–5 years, then upon suspicion of OSA

  • Bronchoscopy

 As necessary to evaluate pulmonary involvement or in preparation for general anesthesia
Musculoskeletal

  • JROM

 Yearly
  • Bone mapping, radiograph of
    • ○ Spine and hip
    • ○ Thoracic
    • ○ Hands
    • ○ Long bones
 Upon diagnosis and thereafter in response to signs and symptoms
Ophthalmologic
  • Standard ophthalmologic examination
    • ○ Visual acuity
    • ○ Visual field
    • ○ Biomicroscopy
    • ○ Intraocular pressure
    • ○ Electroretinography
 Yearly
Psychiatric

  • Clinical evaluation

  • Psychosocial/environmental evaluation

 According to clinical judgment
Dental

  • Standard dental care

 Every 6 mo
Abdominal Every examination Every examination
  Inguinal hernia

  • Clinical evaluation
  Hepatosplenomegaly

  • Clinical evaluation
a

Recommendations upon diagnosis, and thereafter as indicated.

6MWT, 6-minute walk test; CSF, cerebrospinal fluid; CT, computed tomography; ECG, electrocardiogram; ECHO, echocardiogram; EEG, electroencephalography; JROM, joint range of motion; LP, lumbar puncture; MRI, magnetic resonance imaging; OSA, obstructive sleep apnea.