Fabry's disease MRI

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] {Associate Editor(s)-in-Chief:

Overview

MRI can play an important role in the diagnosis of the brain and cardiac complications of Fabry's disease. there are also some non-specific findings in renal involvement.

MRI

Brain MRI

Ischemic white matter lesion (Focal, Multi-Focal, Confluent).
Symmetric Increased signal lesions in posterior thalamus, and lateral aspect of thalamic pulvinar nucleus inT1 (Pulvinar sign).^[1]
Dystrophic classification in gray-white junction, basal ganglia, cerebellum.^[2]

Cardiac MRI

Presentation and pattern of LVH
Analysis of the left ventricular mass
Analysis of the papillary muscle mass and anatomy
Typical late gadolinium enhancement pattern: Delayed enhancement in mid myocardial of basal to mid inferolateral wall (Most common).^[3]

Kidney MRI

Renal cyst
Decreased corticomedullary differentiation^[4]

References

↑ Cocozza S, Russo C, Pontillo G, Pisani A, Brunetti A (2018). "Neuroimaging in Fabry disease: current knowledge and future directions". Insights Imaging. 9 (6): 1077–1088. doi:10.1007/s13244-018-0664-8. PMC 6269338. PMID 30390274.
↑ Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E; et al. (2006). "Imaging features of Fabry disease". AJR Am J Roentgenol. 186 (4): 1184–91. doi:10.2214/AJR.05.0019. PMID 16554602.
↑ Tower-Rader A, Jaber WA (2019). "Multimodality Imaging Assessment of Fabry Disease". Circ Cardiovasc Imaging. 12 (11): e009013. doi:10.1161/CIRCIMAGING.119.009013. PMID 31718277.
↑ Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E; et al. (2006). "Imaging features of Fabry disease". AJR Am J Roentgenol. 186 (4): 1184–91. doi:10.2214/AJR.05.0019. PMID 16554602.

[pmid30390274-1] Cocozza S, Russo C, Pontillo G, Pisani A, Brunetti A (2018). "Neuroimaging in Fabry disease: current knowledge and future directions". Insights Imaging. 9 (6): 1077–1088. doi:10.1007/s13244-018-0664-8. PMC 6269338. PMID 30390274.

[pmid16554602-2] Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E; et al. (2006). "Imaging features of Fabry disease". AJR Am J Roentgenol. 186 (4): 1184–91. doi:10.2214/AJR.05.0019. PMID 16554602.

[pmid31718277-3] Tower-Rader A, Jaber WA (2019). "Multimodality Imaging Assessment of Fabry Disease". Circ Cardiovasc Imaging. 12 (11): e009013. doi:10.1161/CIRCIMAGING.119.009013. PMID 31718277.

[pmid165546022-4] Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E; et al. (2006). "Imaging features of Fabry disease". AJR Am J Roentgenol. 186 (4): 1184–91. doi:10.2214/AJR.05.0019. PMID 16554602.

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