Hurler disease

Preschooler
with a genetic syndrome. CXR AP (left) shows widened ribs which are narrowed at the costovertebral junction (oar-shaped). Lateral radiograph of the spine (right) shows anterior beaking of the inferior aspect of the L3 vertebral body.The diagnosis was Mucopolysaccharidoses Type I / Hurler syndrome.
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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 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
Other features include

History and etymology

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

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Mukopolysaccharidose Typ I-H:
Gibbus
 
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Makrozephalie
 
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Mukopolysaccharidose
 
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atlantoaxiale
Subluxation
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