Gaucher Disease

  • Etiology: Lysosomal storage disease
  • Imaging Radiograph: Erlenmeyer flask deformity on femoral radiographs with reduced constriction of diaphysis and flaring of metaphysis due to undertubulation
  • DDX:
  • Complications:
  • Treatment:
  • Clinical:

Radiology Cases of Gaucher Disease

MRI of Gaucher disease
Coronal T1 MRI without contrast (left) and T2 MRI (right) of the femurs shows a heterogeneous appearance to the bone marrow of the femurs due to diffuse marrow infiltration. The femurs have a mildly reduced constriction of diaphysis and flaring of metaphysis due to undertubulation, giving them the appearance of an Erhlemeyer flask.

MRI of femur in Gaucher disease
Coronal T1 MRI without contrast (left) and coronal T2 MRI (right) of the femurs shows a heterogeneous appearance to the bone marrow of the femurs due to diffuse marrow infiltration. The femurs have a mildly reduced constriction of diaphysis and flaring of metaphysis due to undertubulation, giving them the appearance of an Erhlemeyer flask.