Magnetic resonance image findings in 5 young patients with Fabry disease.

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.