Signs and symptoms of Hunter syndrome (MPS II) overview

Hunter Syndrome (MPS II) can be very difficult to diagnose because of the variation in presentation, the insidious onset and the overlap in signs and symptoms with common childhood complaints.1

Increase your knowledge by exploring the signs and symptoms that should trigger suspicion of Hunter syndrome.1

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Multisystemic manifestations of Hunter syndrome, Dr. David Whiteman

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Reference:  1. Burton BK, Giugliani R Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 2012; 171(4): 631–639.

Carpal Tunnel Syndrome in Hunter syndrome patient
Carpal tunnel syndrome 
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • spinal cord compression, leading to cervical myelopathy– which may initially present as reduced activity or difficulty in rising from a seated position1,3
  • hydrocephalus2
  • developmental delay and regression*4
  • mental impairment that is profound and progressive*1
  • seizures: commonly tonic-clonic that respond to anticonvulsant therapy*4

Neuropathic phenotype only

Patients with the neuropathic phenotype have profound cognitive involvement, while those with the non-neuropathic phenotype will have minimal-to-no neurological involvement and retain normal or nearly normal intelligence.1,5,6

CNS abnormalities for neuropathic Hunter syndrome patients can include imaging findings of significant regional atrophy and enlarged ventricles.2

References:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.  2. Holt JB et al. Pediatrics 2011; 127(5) :e1258–1265.  3. Scarpa M et al. Orphanet J Rare Dis 2011, 6:72.  4. Muenzer J et al. Pediatrics 2009; 124(6): e1228–1239.  5. Burton BK, Giugliani R. Eur J Pediatr 2012; 171(4): 631–639.  6. Giugliani R et al. Genet Mol Biol. 2014; 37(2): 315–329.

Enlarged mouth and tongue in Hunter syndrome patient
Enlarged mouth and tongue
Peg-shaped, widely-spaced teeth in Hunter syndrome patient
Peg-shaped, widely-spaced teeth
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • enlarged tonsils and adenoids1
  • enlarged tongue1
  • irregular, peg-shaped, widely-spaced teeth1
  • these symptoms can lead to difficulty in chewing and swallowing1
  • tracheomalacia from the deposition of glycosaminoglycans (GAGs) in the soft tissues of the throat and trachea can lead to upper airway obstruction and obstructive sleep apnea2

References:  1. Muenzer J et al. Pediatrics 2009; 124(6): e1228–1239.  2. Scarpa M et al. Orphanet J Rare Dis 2011; 6: 72.

Loss of vision in hunter syndrome patients
Loss of vision
Signs and symptoms of Hunter syndrome (MPS II) relating to the eyes may include:
  • loss of vision1
  • optic disc swelling1
  • papilledema1
  • optic atrophy1
  • retinal pigmentary degeneration1
Signs and symptoms of Hunter syndrome (MPS II) relating to the ears may include:
  • recurrent ear infections2
  • chronic otitis media3
  • progressive hearing loss: both conductive and sensorineural,2 which can be improved with hearing aids3

References:  1. Scarpa M et al. Orphanet J Rare Dis 2011; 6: 72.  2. Martin R et al. Pediatrics 2008; 121(2): e377–86.  3.Muenzer J et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124(6): e1228–1239.

Coarse Facial Features in hunter syndrome patient
Large head circumference
Large, protruding tongue in hunter syndrome patient
Large, protruding tongue
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • large head circumference1
  • broad nose with flared nostrils1
  • prominent supraorbital ridges1
  • large jowls1
  • thick lips1
  • large, protruding tongue1
  • irregularly shaped teeth2

Hunter syndrome patients typically show no signs or symptoms of the condition at birth, although the large circumference of the head is present throughout life. Coarsening of the facial features presents at around 2 to 4 years of age and is often a key diagnostic clue of Hunter syndrome.1,3

References:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.   2. Scarpa M et al. Orphanet J Rare Dis 2011; 6: 72.  3. Burton BK, Giugliani R. Eur J Pediatr 2012; 171(4): 631–639.

Enlarged liver and spleen in hunter syndrome patients
Enlarged liver and spleen
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • enlarged liver and spleen resulting in abdominal distention1
  • umbilical and inguinal hernias1
  • chronic diarrhea: more commonly observed in patients with the severe phenotype1

Umbilical and inguinal hernias are a common reason for Hunter syndrome patients requiring surgery, with a prevalence of approximately 50%: much higher than the general population.2 Hernias are among one of the first signs and symptoms of Hunter syndrome to manifest.2

References:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.   2. Mendelsohn NJ et al. Genet Med 2010; 12(12): 816–822.

Tracheomalacia in hunter syndrome patient viewed on airway endoscopy
Tracheomalacia viewed on airway endoscopy
Complications due to airway obstruction are a common cause of mortality in Hunter syndrome patients. Airway involvement is progressive by nature, first manifesting in the upper airways and spreading to the lower airways.1
Signs and symptoms of Hunter syndrome (MPS II) may include:1
  • progressive airway obstruction, caused by:
    • narrow and abnormally shaped trachea and bronchi
    • enlarged tongue and epiglottis
    • hypertropic adenoids and tonsils
    • frequent upper respiratory tract infections, such as recurrent pneumonia
    • thick nasal and tracheal secretions
  • restricted movement of the temporomandibular joints, a stiff chest wall and abdominal distension
  • tracheobronchomalacia
  • sleep apnea

Reference:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.

Abnormal bone thickness in hunter syndrome patient
Abnormal bone thickness
Claw-like hands in hunter syndrome patient
Claw-like hands

The combination of skeletal changes seen in Hunter syndrome patients often results in a reduction in the range of joint motion, and thus severe restrictions on mobility.1 Patients are often observed to be ‘walking on their toes’ due to tight heel cords and joint stiffness.1

Together, skeletal symptoms of Hunter syndrome are known as dysostosis multiplex.1
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • abnormal bone thickness1
  • irregular epiphyseal ossification of the joints in the hands, shoulders and elbows1
  • claw-like hands1
  • thickened and unusually shaped ribs1
  • bulky clavicles1
  • notching on lateral surface of vertebrae1
  • destructive hip arthropathy2
  • short stature – patients with severe phenotype are initially taller than average before growth slows at around the age of 3 or 4 years3,4

References:  1. Martin R et al. Pediatrics 2008; 121(2): e377–386.  2. Wraith EJ et al. Eur J Pediatr 2008; 167:267–277.  3. Scarpa M et al. Orphanet J Rare Dis 2011; 6: 72.  4. Burton BK, Giuliani R Eur J Pediatr 2012; 171(4): 631–639.

Ivory white papules on skin in hunter syndrome patient
Ivory white papules on skin
Signs and symptoms of Hunter syndrome (MPS II) may include:
  • thickened and inelastic skin1
  • pebbling of skin: ivory white papule 2–10mm in diameter, often coalescing to form ridges1
  • although considered characteristic of Hunter syndrome, the pebbling of skin is not seen in all cases1

Reference:  1. Martin R et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008; 121(2): e377–386.

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