Morquio Syndrome

  • Etiology: lysosomal storage disorders which have excessive accumulation of mucopolysaccharides secondary to deficiencies in lysosomal hydrolase enzymes responsible for degradation of mucopolysaccharides
  • Imaging: central beaking of vertebral bodies -> gibbus deformity, short wide ribs – canoe paddle ribs, universal platyspondyly unique to Morquio within mucopolysaccharidosis, flared pelvis, shortened broad bones
  • Clinical: Mucopolysaccharidoses Type IV

Radiology Cases of Morquio Syndrome

Spine radiograph of Morquio syndrome
AP radiograph of the thoracolumbar spine (left) shows ribs that are widened but then taper at their vertebral insertions (oar-shaped ribs). Lateral radiograph of the thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly, resulting in a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.