Mucopolysaccharidoses

  • Etiology: lysosomal storage disorders which have excessive accumulation of mucopolysaccharides secondary to deficiencies in lysosomal hydrolase enzymes responsible for degradation of mucopolysaccharides
  • Imaging: beaked vertebral bodies, bullet shaped metacarpals, short trunked skeletal dysplasia from platyspondyly
    — Osteoporosis
    — Microcephaly
    — Thick calvaria
    — Wide ribs which are narrowed at costovertebral angle (oar shaped)
    — Beaked oval vertebral bodies
    — Thick trabeculae
    — Femoral head dysplasia
    — Coxa valga
    — Narrow iliac wings
    — Shortened tubular bones
    — Tapering of 2nd -> 5th metacarpals
    — Delayed myelination, atrophy, large Virchow-Robin spaces
  • Clinical:
    — Mucopolysaccharidoses Type I = Hurler syndrome
    — Mucopolysaccharidoses Type II = Hunter syndrome
    — Mucopolysaccharidoses Type IV = Morquio syndrome

Radiology Cases of Mucopolysaccharidoses

Radiology Cases of Mucopolysaccharidoses Type I Hurler Syndrome

Radiology Cases of Mucopolysaccharidoses Type II Hunter Syndrome

Radiology Cases of Mucopolysaccharidoses Type IV 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.

Radiology Cases of Mucopolysaccharidoses Type VI

CT of spine in mucopolysaccharidoses type VI
Sagittal CT without contrast of the cervical spine (left) and thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly. There is a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.