Hurler syndrome

Last revised by Dr Ali Hajihashemi on 06 Oct 2022

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

The estimated incidence is ~1:100,000.

It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the first decade of life, often from cardiac disease.

It carries an autosomal recessive inheritance.

  • neurological anomalies
  • cervicomedullary junction anomalies
    • cord compression at the craniovertebral junction:
      • C1-C2 subluxation: atlantoaxial subluxation
      • narrowing of the foramen magnum due to a combination of short C1 arch, dysplastic odontoid, and thickened meninges and ligaments  
  • skeletal anomalies
  • heart involvement/anomalies
    • cardiac valve disease: early-onset severe regurgitation and stenosis
    • coronary artery disease
    • cardiomegaly: initially hypertrophic then dilated
  • other features

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

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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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  • Case 3
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