Hurler Syndrome

  • Etiology: Lysosomal storage disorder which has excessive accumulation of mucopolysaccharides secondary to deficiencies in lysosomal hydrolase enzymes responsible for degradation of mucopolysaccharides
  • Imaging Radiograph:
    — Inferior beaking of vertebral bodies especially of L1 leads to focal kyphosis centered at L1 (gibbus deformity)
    — Thick metacarpals with proximal tapering (bullet shaped)
  • DDX:
  • Complications:
  • Treatment:
  • 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.