Fabry's disease MRI: Difference between revisions

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__NOTOC__
__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}
{{CMG}}
{{CMG}} {{{AE}} {{GhazalS}}


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==Overview==
==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==
==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 [[Pulvinar]] (T1).
*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 <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>===
===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<br />
*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 content]]
[[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

Fabry's disease Microchapters

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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

Cardiac MRI

Kidney MRI

References

  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.
  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.
  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.
  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.