595 10.2217/FNL.12.52 © 2012 Future Medicine Ltd ISSN 1479-6708 Future Neurol. (2012) 7(5), 595–612 part of Future Neurology Advances in the diagnosis of leukodystrophies Bradley Osterman 1 , Roberta La Piana 2 & Geneviève Bernard* 1 1 Montreal Children’s Hospital, 2300 Tupper, Room A-506, Montreal, Quebec, H3H 1P3, Canada 2 Montreal Neurological Institute, 3801 University Street, Montreal, Quebec, H3A 2B4, Canada *Author for correspondence: Tel.: +1 514 412 4466 n Fax: +1 514 412 4373 n [email protected] Leukodystrophies are a heterogeneous group of inherited disorders that preferentially affect the CNS white matter. They are classified as demyelinating (or classic) or hypomyelinating according to brain MRI characteristics. As these disorders often have a similar clinical presentation according to their age of onset, the initial diagnostic approach is often challenging. This review aims to help clinicians approach these disorders using information from the history (e.g., age of onset), the examination (e.g., presence of macrocrania) and MRI scans in order to reduce the number of possible diagnoses for a given patient and to hopefully lead to a precise (molecular) diagnosis. Keywords n demyelination n diagnostic approach n hypomyelination n leukodystrophies n leukoencephalopathies n MRI Review Medscape: Continuing Medical Education Online This acvity has been planned and implemented in accordance with the Essenal Areas and policies of the Accreditaon Council for Connuing Medical Educaon through the joint sponsorship of Medscape, LLC and Future Medicine Ltd. Medscape, LLC is accredited by the ACCME to provide connuing medical educaon for physicians. Medscape, LLC designates this Journal-based CME acvity for a maximum of 1 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their parcipaon in the acvity. All other clinicians compleng this acvity will be issued a cerficate of parcipaon. To parcipate in this journal CME acvity: (1) review the learning objecves and author disclosures; (2) study the educaon content; (3) take the post-test with a 70% minimum passing score and complete the evaluaon at www.medscape.org/journal/fnl; (4) view/print cerficate. Release date: 10 September 2012; Expiraon date: 10 September 2013 Learning objectives Upon compleon of this acvity, parcipants should be able to: n Describe classificaon of leukodystrophies based on MRI characteriscs, according to a review n Describe differenal diagnosis of leukodystrophies based on clinical features, according to a review n Describe genec features of leukodystrophies, according to a review Financial & competing interests disclosure Editor: Elisa Manzotti , Publisher, Future Science Group. Disclosure: Elisa Manzotti has disclosed no relevant financial relationships. CME author: Laurie Barclay, Freelance writer and reviewer, Medscape, LLC. Disclosure: Laurie Barclay, MD, has disclosed no relevant financial relationships. Authors & credentials: Bradley Osterman, MD, Montreal Children’s Hospital, 2300 Tupper, Room A-506, Montreal, Quebec, H3H 1P3, Canada. Disclosure: Bradley Osterman has disclosed no relevant financial relation- ships. Roberta La Piana, MD, Montreal Neurological Institute, 3801 University Street, Montreal, Quebec, H3A 2B4, Canada. Disclosure: R La Piana has received a fellowship grant from the Montreal Neurological Institute. She has no other relevant financial relationships. Geneviève Bernard, MD, Montreal Children’s Hospital, 2300 Tupper, Room A-506, Montreal, Quebec, H3H 1P3, Canada. Disclosure: Geneviève Bernard has received funding from the Fondation sur les Leucodystrophies, the Fondation Go and the Montreal Children’s Hospital and McGill University Health Center Research Institutes. She has also received clinician-scientist salary awards from the Fonds de Recherche en Santé du Québec. She has no other relevant financial relationships. No writing assistance was utilized in the production of this manuscript. For reprint orders, please contact: [email protected]
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