Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).

It carries an autosomal recessive inheritance and manifests in the first years of life. It is clinically characterized by mental retardation, corneal clouding, deafness and cardiac disease, with death resulting in the first decade of life, often from cardiac disease.

The estimated incidence is ~1:100,000.

  • macrocephaly
  • prominent perivascular spaces
  • pachymeningiopathy
  • J-shaped sella
  • concave articular surface of mandibular condyle
  • cord compression at craniovertebral junction:
    • C1-C2 subluxation: atlanto-axial subluxation
    • narrowing of the foramen magnum due to combination of short C1 arch, dysplastic odontoid, and thickened meninges and ligaments  
  • shortening and widening of long bones
  • pointing of proximal metacarpals
  • widening of anterior ribs (oar-shaped / paddle ribs) and clavicles 
  • thoracolumbar kyphosis or hypoplastic vertebra at thoracolumbar junction results in gibbus 
  • anterior inferior vertebral body beaking 
  • heart involvement
    • cardiac valve disease: early onset severe regurgitation and stenosis
    • coronary artery disease
    • cardiomegaly: initially hypertrophic then dilated 

It is named after Gertrud Hurler (1889-1965), a German pediatrician 1.

Inborn errors of metabolism
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Article information

rID: 10630
Synonyms or Alternate Spellings:
  • Hurler disease
  • MPS IH
  • Hurler mucopolysaccharidosis
  • MPS type I

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Cases and figures

  • Case 1
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  • Case 2: widening of anterior ribs
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  • Case 2: macrocephaly
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  • Case 2: anterior inferior vertebral body beaking
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  • Case 2: upper limb
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