Diagnostic utility of different MRI and MR angiography measures in Fabry disease.
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.
Fellgiebel
A
A
Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Str. 8, 55131 Mainz, Germany. fellgiebel@psychiatrie.klinik.uni-mainz.de
Keller
I
I
Marin
D
D
Müller
M J
MJ
Schermuly
I
I
Yakushev
I
I
Albrecht
J
J
Bellhäuser
H
H
Kinateder
M
M
Beck
M
M
Stoeter
P
P
D000328:Adult; D019540:Area Under Curve; D001921:Brain / Q000473:pathology; D001931:Brain Mapping; D016022:Case-Control Studies; D002533:Cerebral Angiography / Q000379:methods*; D002536:Cerebral Arteries / Q000473:pathology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity