1. Upper Leg and Knee - Radiograph
Erlenmeyer flask deformity of the distal femur. Widening of the
distal femur and thinning of cortical bone, especially in the long
bones and vertebrae, are characteristic of Gaucher disease. The bony
abnormalities are considered to be related to the large numbers of
lipid-laden macrophages (Gaucher cells) in the bone marrow, but the
mechanism of bone deformation and destruction in this disease remains
unclear. What category of genetic diseases does Gaucher disease
belong to? Name some other diseases in this group.
Answer
What therapeutic approaches may be used to treat Gaucher
disease?
Answer
Radiograph courtesy of Dr. Jack Reynolds, Dept. of Radiology,
UTSWMC.
