Magnetic resonance imaging morphological features of the cisternal segment of the trigeminal nerve in Fabry disease.

Purpose: To investigate the magnetic resonance imaging (MRI) characteristics of the trigeminal nerve in Fabry disease (FD) by comparing the morphology of the trigeminal nerve in patients with and without FD.

Methods: This retrospective study included 40 patients with FD and 40 age- and sex-matched controls who underwent 3T MRI with constructive interference in steady-state sequence. Two neuroradiologists measured the short-axis length on axial and oblique coronal images and the long-axis length and cross-sectional area on oblique coronal images of the cisternal segment of the trigeminal nerve bilaterally. Morphological differences were assessed between groups and between sides within each group using appropriate t-tests.

Results: All measurements were significantly smaller in the FD group than in the control group: axial images: short-axis length (3.20 ± 0.52 mm vs. 3.51 ± 0.51 mm, p = 0.0101); oblique coronal images: short-axis length (2.41 ± 0.28 mm vs. 2.61 ± 0.35 mm, p = 0.007); long-axis length (3.75 ± 0.53 mm vs. 4.14 ± 0.44 mm, p < 0.001); and cross-sectional area (7.71 ± 1.68 mm² vs. 8.93 ± 1.30 mm², p < 0.001). Left-right differences were observed in both groups; the left side was generally larger. Receiver operating characteristic curve analysis showed moderate diagnostic performance (area under the curve, 0.66-0.72).

Conclusion: The trigeminal nerves in the cisternal region were significantly smaller in patients with FD than in those without FD. These findings may support its potential utility as an imaging biomarker.