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Imaging Features of Fabry Disease

¹ Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 46 rue Henri Huchard, 75722 Paris, Cedex 18, France.
² Department of Radiology, Hôpital Bichat Claude-Bernard, 75722 Paris, Cedex 18, France.
³ Department of Neurology, Hôpital Bichat Claude-Bernard, 75722 Paris, Cedex 18, France.
⁴ Department of Nephrology, Hôpital Bichat Claude-Bernard, 75722 Paris, Cedex 18, France.

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 -galactosidase A, displays more complications in men than in heterozygous women.

CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.

Keywords: brain • cardiovascular disease • Fabry disease • genetics • renal disease

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				S Buechner, M Moretti, A P Burlina, G Cei, R Manara, R Ricci, R Mignani, R Parini, R Di Vito, G P Giordano, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study J. Neurol. Neurosurg. Psychiatry, November 1, 2008; 79(11): 1249 - 1254. [Abstract] [Full Text] [PDF]