Hurler Syndrome

  • Etiology: lysosomal storage disorders which have excessive accumulation of mucopolysaccharides secondary to deficiencies in lysosomal hydrolase enzymes responsible for degradation of mucopolysaccharides
  • Imaging: inferior beaking of vertebral bodies -> gibbus deformity, thick metacarpals with proximal tapering (bullet shaped)
  • Clinical: Mucopolysaccharidoses Type I

Radiology Cases of Hurler Syndrome

Radiograph of Hurler 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.