Review ArticlesClinical and Neuroimaging Spectrum of Peroxisomal DisordersTan, Ai Peng MD*; Gonçalves, Fabrício Guimarães MD†; Almehdar, Abeer MD‡; Soares, Bruno Passebon MD§Author Information *Department of Diagnostic Radiology, National University Health System, Singapore, Singapore †Neuroradiology Department, Children's Hospital of Brasilia, Brasília, Brazil ‡Medical Imaging Department, King Abdulaziz Medical City, Jeddah, Saudi Arabia §Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD. Address correspondence to Ai Peng Tan, MD, FRCR, Department of Diagnostic Radiology, National University Health System, 5 Lower Kent Ridge Road, Singapore 119074, Singapore. (E-mail: [email protected]). No funding was secured for this study. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. The authors have no conflicts of interest to disclose. Topics in Magnetic Resonance Imaging: August 2018 - Volume 27 - Issue 4 - p 241-257 doi: 10.1097/RMR.0000000000000172 Buy Metrics Abstract Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies. Peroxisomal enzyme deficiencies are result of dysfunction of a specific metabolic pathway, while PBDs are due to generalized peroxisomal dysfunction. Mutations in PEX1 gene are the most common cause of PBDs, accounting for two-thirds of cases. Peroxisomal fission defects is a recently recognized entity, included under the subgroup of PBDs. The aim of this article is to provide a comprehensive review on the clinical and neuroimaging spectrum of peroxisomal disorders. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.