Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review

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dc.contributor.authorFagan, Nathan
dc.contributor.authorAlexander, Allen
dc.contributor.authorIrani, Neville
dc.contributor.authorSaade, Charbel
dc.contributor.authorNaffaa, Lena N.
dc.contributor.departmentDiagnostic Radiology
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T11:41:02Z
dc.date.available2025-01-24T11:41:02Z
dc.date.issued2017
dc.description.abstractLysosomal storage diseases (LSD) are a complex group of genetic disorders that are a result of inborn errors of metabolism. These errors result in a variety of metabolic dysfunction and build-up certain molecules within the tissues of the central nervous system (CNS). Although, they have discrete enzymatic deficiencies, symptomology and CNS imaging findings can overlap with each other, which can become challenging to radiologists. The purpose of this paper is to review the most common CNS imaging findings in LSD in order to familiarize the radiologist with their imaging findings and help narrow down the differential diagnosis. © 2016 The Royal Australian and New Zealand College of Radiologists
dc.identifier.doihttps://doi.org/10.1111/1754-9485.12569
dc.identifier.eid2-s2.0-85007275605
dc.identifier.pmid28019087
dc.identifier.urihttp://hdl.handle.net/10938/29633
dc.language.isoen
dc.publisherBlackwell Publishing
dc.relation.ispartofJournal of Medical Imaging and Radiation Oncology
dc.sourceScopus
dc.subjectCentral nervous system
dc.subjectImaging findings
dc.subjectLysosomal storage diseases
dc.subjectMagnetic resonance imaging
dc.subjectCentral nervous system diseases
dc.subjectDiagnosis, differential
dc.subjectHumans
dc.subjectArticle
dc.subjectDifferential diagnosis
dc.subjectFabry disease
dc.subjectGangliosidosis
dc.subjectGloboid cell leukodystrophy
dc.subjectHuman
dc.subjectLysosome storage disease
dc.subjectMetachromatic leukodystrophy
dc.subjectMucopolysaccharidosis
dc.subjectNeuronal ceroid lipofuscinosis
dc.subjectNuclear magnetic resonance imaging
dc.subjectPriority journal
dc.subjectProfessional knowledge
dc.subjectRadiologist
dc.subjectCentral nervous system disease
dc.subjectDiagnostic imaging
dc.subjectProcedures
dc.titleMagnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review
dc.typeArticle

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