Neuroimaging in Fabry disease: current knowledge and future directions

Fabry disease (FD) is a rare X-linked disorder characterised by abnormal progressive lysosomal deposition of globotriaosylceramide in a large variety of cell types. The central nervous system (CNS) is often involved in FD, with a wide spectrum of manifestations ranging from mild symptoms to more sev...

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Vydáno v:Insights into imaging Ročník 9; číslo 6; s. 1077 - 1088
Hlavní autoři: Cocozza, Sirio, Russo, Camilla, Pontillo, Giuseppe, Pisani, Antonio, Brunetti, Arturo
Médium: Journal Article
Jazyk:angličtina
Vydáno: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2018
Springer Nature B.V
SpringerOpen
Témata:
Abnormalities
Brain
Central nervous system
Diagnostic Radiology
Fabry disease
Imaging
Imaging techniques
Internal Medicine
Interventional Radiology
Magnetic resonance imaging
Medical imaging
Medicine
Medicine & Public Health
Neuroimaging
Neurology
Neuroradiology
Radiology
Review
Ultrasound
Magnetic resonance imaging
Fabry disease
Central nervous system
ISSN:1869-4101, 1869-4101
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Popis
Shrnutí:Fabry disease (FD) is a rare X-linked disorder characterised by abnormal progressive lysosomal deposition of globotriaosylceramide in a large variety of cell types. The central nervous system (CNS) is often involved in FD, with a wide spectrum of manifestations ranging from mild symptoms to more severe courses related to acute cerebrovascular events. In this review we present the current knowledge on brain imaging for this condition, with a comprehensive and critical description of its most common neuroradiological imaging findings. Moreover, we report results from studies that investigated brain physiopathology underlying this disorder by using advanced imaging techniques, suggesting possible future directions to further explore CNS involvement in FD patients. Teaching Points • Conventional neuroradiological findings in FD are aspecific. • White matter hyperintensities represent the more consistent brain imaging feature of FD • Abnormalities of the vasculature wall of posterior circulation are also consistent features. • The pulvinar sign is not reliable as a finding pathognomonic for FD. • Advanced imaging techniques have increased our knowledge about brain involvement in FD.
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ISSN:1869-4101
1869-4101
DOI:10.1007/s13244-018-0664-8