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

• macrocephaly
• prominent perivascular spaces
• cerebral atrophy
• diffuse white matter changes
• hydrocephalus
• pachymeningiopathy
• J-shaped sella
• concave articular surface of the mandibular condyle
• 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  
• 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 gibbous 
• anterior inferior vertebral body beaking 
• heart involvement
  • cardiac valve disease: early-onset severe regurgitation and stenosis
  • coronary artery disease
  • cardiomegaly: initially hypertrophic then dilated 

Other features include

• prominent perivascular spaces
• hepatosplenomegaly

History and etymology

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