Imaging features of Fabry disease.
OBJECTIVE
Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase alpha-galactosidase A, displays more complications in men than in heterozygous women.


CONCLUSIONS
It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.
Lidove
Olivier
O
Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 46 rue Henri Huchard, 75722 Paris, Cedex 18, France.
Klein
Isabelle
I
Lelièvre
Jean-Daniel
JD
Lavallée
Philippa
P
Serfaty
Jean-Michel
JM
Dupuis
Emmanuel
E
Papo
Thomas
T
Laissy
Jean-Pierre
JP
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography