Hurler’s Syndrome

  • Etiology: lysosomal storage disorders which have excessive accumulation of mucopolysaccharides secondary to deficiencies in lysosomal hydrolase enzymes responsible for degradation of mucopolysaccharides
  • Imaging: inferior beaking of vertebral bodies -> gibbus deformity, thick metacarpals with proximal tapering (bullet shaped)
  • Clinical: Mucopolysaccharidoses Type I

Cases of Hurler’s Syndrome