MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy

J Comput Assist Tomogr. 1993 Sep-Oct;17(5):806-9. doi: 10.1097/00004728-199309000-00026.

Abstract

Vertebra plana and multiple platyspondyly are complications of aggressive Gaucher disease. Magnetic resonance imaging readily identifies vertebra plana and secondary spinal cord compression. We present a case of a 2-year-old boy with clinically aggressive Type 1 Gaucher disease in whom MRI showed partial reconstitution of the height of a collapsed lumbar vertebral body after 16 months of enzyme replacement therapy.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / drug therapy*
  • Gaucher Disease / pathology
  • Glucosylceramidase / therapeutic use*
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Spine / abnormalities*
  • Spine / pathology

Substances

  • alglucerase
  • Glucosylceramidase