[Magnetic resonance in the diagnosis of extent and osseous complications of Gaucher's disease type 1].
OBJECTIVE
To evaluate the usefulness of magnetic resonance (MR) for investigating bone involvement in Gaucher disease type 1 (GD).


METHODS
Ten adult patients with the diagnosis of GD type 1 were studied. Weighted sequences were performed in spin-echo (SE) T1 and T2 of 4 body areas: spine, pelvis, hips, and femurs. The patterns of bone infiltration proposed for the study were: homogeneous infiltration (H), non-homogeneous infiltration (NH), and normality (N). Four patients were receiving enzyme replacement therapy.


RESULTS
All patients (100%) showed changes associated with infiltration with Gaucher cells. The distribution of patterns was as follows: the homogeneous pattern predominated (60 and 50%, respectively) in spine (6H/2NH/2N) and pelvis (5H/3NH/2N), whereas the non-homogeneous pattern predominated (60% and 80%, respectively) in hips (1H/6NH/3N) and femurs (1H/8NH/1N). As bone complications two cases of hip avascular necrosis were noted, one of them with bilateral involvement, one case with infarcts in femur diaphysis and other case with medullar edema in a bone crisis.


CONCLUSIONS
MR is an excellent technique for detecting medullar bone infiltration and complications in GD type 1.
Roca
M
M
Servicio de Radiodiagnóstico, Hospital Miguel Servet, Zaragoza.
Mota
J
J
Giraldo
P
P
Pérez Calvo
J
J
Gómez Pereda
R
R
Giralt
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D001847:Bone Diseases / Q000175:diagnosis* / Q000209:etiology; D001855:Bone Marrow Diseases / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010020:Osteonecrosis / Q000175:diagnosis / Q000209:etiology