MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy.
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.
Diagnostic Radiology Department, National Institutes of Health, Bethesda, MD 20892.
S C
SC
Hill
C C
CC
Parker
R O
RO
Brady
N W
NW
Barton
D002675:Child, Preschool; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000473:pathology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013131:Spine / Q000002:abnormalities* / Q000473:pathology
C070292:alglucerase; D005962:Glucosylceramidase