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Updated: Aug 10, 2026
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Magnetic resonance image findings in 5 young patients with Fabry disease
Juan M Politei1, Aristides A Capizzano
1Neurology Service, Juan A. Fernandez Hospital, Buenos Aires, Argentina. jpolitei@hotmail.com
Introduction:
Fabry disease is an X-linked recessive lysosomal storage disease; it is due to alpha-galactosidase A deficiency, and its clinical course shows repeated small artery strokes.
Methods:
Five patients diagnosed with Fabry disease (mean age +/- SD = 28.2 +/- 11.1 years) and 5 age-matched controls were evaluated with the following magnetic resonance image (MRI) sequences: T1, T2, FLAIR, diffusion, and single voxel spectroscopy at the parietal lobe.
Results:
Conventional images did not reveal alterations. Mean apparent diffusion coefficient (ADC) +/- SD in the corona radiata of patients was 7.8 +/- 0.2 x 10 mm/s, which was significantly higher than for controls: 6.93 +/- 0.49 x 10 mm/s (P < 0.05). At the lenticular nucleus there were no differences in ADC values between patients (7.32 +/- 0.2 x 10 mm/s) and controls (7.2 +/- 0.2 x 10 mm/s). The mean ratio NAA/Cr +/- SD at the parietal lobes was 1.94 +/- 0.2 for patients and 2.1 +/- 0.13 for controls (P = n.s.).
Discussion:
: In a group of young Fabry disease patients with normal MRIs, a significant increment of over 12% in ADC values in the corona radiata was found compared with age-matched controls. The change could reflect increased interstitial water content after the Starling equilibrium under raised cerebral blood flow, which is a known feature of Fabry disease.
Conclusion:
Raised ADC values could predate conventional MRI changes in Fabry disease and therefore be a more sensitive marker of disease progression and response to enzymatic replacement therapy.
