Fabry's disease MRI: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{{AE}} | {{CMG}} {{{AE}} {{GhazalS}} | ||
==Overview== | ==Overview== | ||
MRI can play an important role in diagnosis of the brain and cardiac complications of Fabry's disease. | [[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== | ==MRI== | ||
===Brain MRI | ===Brain MRI === | ||
*Ischemic [[white matter]] lesion (Focal, Multi-Focal, Confluent). | *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).<ref name="pmid30390274">{{cite journal| author=Cocozza S, Russo C, Pontillo G, Pisani A, Brunetti A| title=Neuroimaging in Fabry disease: current knowledge and future directions. | journal=Insights Imaging | year= 2018 | volume= 9 | issue= 6 | pages= 1077-1088 | pmid=30390274 | doi=10.1007/s13244-018-0664-8 | pmc=6269338 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30390274 }}</ref> | *Symmetric Increased signal lesions in posterior [[thalamus]], and lateral aspect of thalamic [[pulvinar]] nucleus inT1 ([[Pulvinar]] sign).<ref name="pmid30390274">{{cite journal| author=Cocozza S, Russo C, Pontillo G, Pisani A, Brunetti A| title=Neuroimaging in Fabry disease: current knowledge and future directions. | journal=Insights Imaging | year= 2018 | volume= 9 | issue= 6 | pages= 1077-1088 | pmid=30390274 | doi=10.1007/s13244-018-0664-8 | pmc=6269338 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30390274 }}</ref> | ||
*Dystrophic classification in [[gray-white junction]], [[basal ganglia]], [[cerebellum]]. | *Dystrophic classification in [[gray-white junction]], [[basal ganglia]], [[cerebellum]].<ref name="pmid16554602">{{cite journal| author=Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E | display-authors=etal| title=Imaging features of Fabry disease. | journal=AJR Am J Roentgenol | year= 2006 | volume= 186 | issue= 4 | pages= 1184-91 | pmid=16554602 | doi=10.2214/AJR.05.0019 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16554602 }}</ref> | ||
===Cardiac MRI | ===Cardiac MRI=== | ||
*Presentation and pattern of [[Left ventricular hypertrophy|LVH]] | *Presentation and pattern of [[Left ventricular hypertrophy|LVH]] | ||
*Analysis of the [[left ventricular mass]] | *Analysis of the [[left ventricular mass]] | ||
*Analysis of the [[papillary muscle]] mass and anatomy | *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). | *Typical [[late gadolinium enhancement]] pattern: Delayed enhancement in mid myocardial of basal to mid inferolateral wall (Most common).<ref name="pmid31718277">{{cite journal| author=Tower-Rader A, Jaber WA| title=Multimodality Imaging Assessment of Fabry Disease. | journal=Circ Cardiovasc Imaging | year= 2019 | volume= 12 | issue= 11 | pages= e009013 | pmid=31718277 | doi=10.1161/CIRCIMAGING.119.009013 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31718277 }}</ref> | ||
===Kidney MRI | ===Kidney MRI=== | ||
*Renal cyst | *[[Renal cyst]] | ||
*Decreased corticomedullary differentiation< | *Decreased [[corticomedullary]] differentiation<ref name="pmid165546022">{{cite journal| author=Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E | display-authors=etal| title=Imaging features of Fabry disease. | journal=AJR Am J Roentgenol | year= 2006 | volume= 186 | issue= 4 | pages= 1184-91 | pmid=16554602 | doi=10.2214/AJR.05.0019 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16554602 }}</ref> | ||
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{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Needs | [[Category:Needs english review]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Lysosomal storage diseases]] | [[Category:Lysosomal storage diseases]] | ||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] | ||
Latest revision as of 10:33, 14 July 2022
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Fabry's disease MRI On the Web |
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American Roentgen Ray Society Images of Fabry's disease MRI |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] {Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
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.