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 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

Cases of Mucopolysaccharidoses