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 [1]
- 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).[2]
- Dystrophic classification in gray-white junction, basal ganglia, cerebellum.
Cardiac MRI [3]
- 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).
Kidney MRI [4]
- Renal cyst
- Decreased corticomedullary differentiation
References
- ↑ 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.
- ↑ 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.
- ↑ 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.