Hurler syndrome

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

Epidemiology

The estimated incidence is ~1:100,000.

Clinical presentation

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.

Pathology

Genetics

It carries an autosomal recessive inheritance.

Radiographic features

• neurological anomalies
  • macrocephaly
  • prominent perivascular spaces
  • cerebral atrophy
  • diffuse white matter changes
  • hydrocephalus
  • pachymeningiopathy
  • J-shaped sella
• 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
  • ​concave articular surface of the mandibular condyle
  • shortening and widening of long bones
  • left 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 deformity  
  • anterior inferior vertebral body beaking 
• heart involvement/anomalies
  • cardiac valve disease: early-onset severe regurgitation and stenosis
  • coronary artery disease
  • cardiomegaly: initially hypertrophic then dilated
• other features
  • hepatosplenomegaly

History and etymology

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