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