ELAPRASE

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Signs and
Symptoms

This website is intended for healthcare professionals outside of the US and UK

Below are some of the typical signs and symptoms of Hunter syndrome

Respiratory:1–4

  • Restrictive component to lung disease due to small chest and decreased rib mobility
  • Upper airway obstruction/sleep apnoea
  • Flaccidity of the tracheal support cartilage, which leads to tracheal collapse
  • Thick nasal and tracheal secretions
  • Frequent upper respiratory tract infections
  • Enlarged tongue
  • Hypertrophic adenoids and tonsils
  • Increased risk of complications during general anaesthesia
    • Upper airway obstruction
    • Obstructive sleep apnoea
    • Restrictive lung disease
    • Frequent infections
    • Restrictive airway disease

Musculoskeletal:3,5

  • Short neck
  • Joint stiffness and contractures
    • Decreased range of motion
  • Abnormal bone thickness and shape
  • Claw-like hands
  • Carpal tunnel syndrome
  • Spinal deformities
    • Kyphosis
    • Vertebral deformity
    • Spinal cord compression
  • Short stature

Cardiac:6

  • Valve disease
  • Cardiomyopathy
  • Abnormal heart frequency
  • Congestive heart failure
  • Arrhythmia
  • Systemic hypertension

Abdomen:3,7

  • Hepatosplenomegaly
  • Umbilical and/or inguinal hernias
  • Chronic diarrhoea

Central nervous system:3,4,7–9

  • Hyperactivity or aggressive behaviour may occur
  • Cognitive function tends to follow 2 paths:
    • Plateau in cognitive level (48–55 months) followed by rapid decline
    • Continued improvement during childhood development
  • Communicating hydrocephalus
  • Carpal tunnel syndrome
  • Cervical myelopathy
  • Spinal cord compression
  • C1–C2 subluxation
  • Developmental delay
  • Hydrocephalus
  • Gait disturbance
  • Seizures
  • Decreased muscle strength

Ocular:7,10

  • Loss of field of vision
  • Optic disc swelling
  • Retinal pigment degeneration

Craniofacial:3

  • Enlarged head
  • Coarse facial features
    • Broad nose with flared nostrils
    • Prominent supraorbital ridges
    • Prominent supramandibular area
    • Thickened lips
    • Enlarged protruding tongue
    • Irregular, peg-shaped teeth
  • Otorhinolaryngological manifestations
    • Hearing loss
    • Recurrent ear infections
    • Recurrent upper respiratory tract infections

Skin:3,11

  • Thickened and inelastic skin
  • Pebbly, ivory-coloured skin lesions

References:

  1. Morehead J and Parsons DS. Int J Pediatr Otorhinolaryngol. 1993;26:255-261.

  2. Kamin W. Acta Paediatr. 2008;97(457):57-60.

  3. Martin R, Beck M, Eng, C et al. Pediatrics. 2008;129(2):102–109.

  4. Wraith J, Scarpa M, Beck M et al. Eur J Pediatr. 2008;167(3):267–277.

  5. Link B, de Camargo Pinto LL, Giugliani R et al. Orthoped Rev. 2010;2(2)e16.

  6. Kampmann C, Beck M, Morin I et al. J Pediatr. 2011;159(2):327–331.

  7. Neufeld EF and Muenzer J. The Online Metabolic and Molecular Bases of Inherited Disease. 2001:3421–3452.

  8. Holt JB, Poe MD, Escolar ML. Pediatrics. 2011;127(5):e1258-1265.

  9. Young ID and Harper PS. Dev Med Child Neurol. 1983;25(4):481–489.

  10. Ashworth JL, Biswas S, Wraith E et al. Surv Ophthalmol. 2006;51(1):1–17.

  11. Thappa DM, Singh A, Jaisankar TJ et al. Pediatr Dermatol. 1998;15(5):370–373.

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