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Diagnostic utility of different MRI and MR angiography measures in Fabry disease

From the Department of Psychiatry (A.F., I.K., D.M., M.J.M., I.S., I.Y., J.A., H.B., M.K.), Institute of Neuroradiology (I.K., P.S.), and Children's Hospital of the University of Mainz (M.B.), Germany.

Address correspondence and reprint requests to Dr. A. Fellgiebel, Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Str. 8, 55131 Mainz, Germany fellgiebel{at}psychiatrie.klinik.uni-mainz.de

Background: Neurologic hallmarks of Fabry disease (FD) include small fiber neuropathy as well as cerebral micro- and macroangiopathy with premature stroke. Cranial MRI shows progressive white matter lesions (WML) at an early age, increased signal intensity in the pulvinar, and tortuosity and dilatation of the larger vessels. To unravel the most promising imaging tool for the detection of CNS involvement in FD we compared the diagnostic utility of the different MR imaging findings.

Methods: Twenty-five clinically affected patients with FD (age 36.5 ± 11.0) and 20 age-matched controls were investigated by structural MRI, MR angiography, and diffusion tensor imaging (DTI). Individual WML volumes, global mean diffusivity (MD), and mean cerebral artery diameters were determined.

Results: Using receiver operating characteristic analyses, enlarged diameters of the following cerebral arteries significantly separated patients with FD from controls: middle cerebral artery: area under curve (AUC) = 0.75, p = 0.005; posterior cerebral artery: AUC = 0.69, p = 0.041; carotid artery: 0.69, p = 0.041; basilar artery: AUC = 0.96, p < 0.0005. A total of 87% of the individuals were correctly classified by basilar artery diameters (sensitivity 95%, specificity 83%). WML volumes and global MD values did not significantly separate patients from controls.

Conclusions: With an accuracy of 87%, basilar artery diameters were superior to all other MR measures for separating patients with Fabry disease (FD) from controls. Future studies should adopt basilar artery measurements for early detection and monitoring of brain involvement in FD. Moreover, further investigations should reveal if the dilated vasculopathy in FD could be a screening marker to detect FD in a cohort of other cerebrovascular diseases, especially in cryptogenic stroke.

Abbreviations: AUC = area under curve; CI = confidence interval; DTI = diffusion tensor imaging; ERT = enzyme replacement therapy; FA = fractional anisotropy; FD = Fabry disease; FLAIR = fluid-attenuated inversion recovery; MD = mean diffusivity; ROC = receiver operating characteristic; ROI = region of interest; TE = echo time; TOF = time-of-flight; TR = repetition time; WML = white matter lesions.

Disclosure: The authors report no disclosures.

This study is part of the doctoral thesis of Dominik Marin.

Received June 17, 2008. Accepted in final form September 18, 2008.