• 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 dwarf 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’s syndrome
    — Mucopolysaccharidoses Type II = Hunter’s syndrome
    — Mucopolysaccharidoses Type IV = Morquio’s syndrome

Cases of Mucopolysaccharidoses