RT Book, Section A1 Emrick, Lisa T. A1 Robak, Laurie A. A2 Kline, Mark W. SR Print(0) ID 1182924521 T1 Leukodystrophies T2 Rudolph's Pediatrics, 23e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259588594 LK accesspediatrics.mhmedical.com/content.aspx?aid=1182924521 RD 2024/03/28 AB This chapter will focus on the more common and clinically important leukodystrophies. The prevalence of all leukodystrophies is approximately 1 in 7000. Leukodystrophies and genetic leukoencephalopathies comprise a clinically and radiographically heterogeneous group of disorders. These disorders share the common features of neurologic dysfunction and preferential involvement of central nervous system (CNS) white matter. The terminology can be confusing as the terms leukodystrophy and leukoencephalopathy are both used clinically and found interchangeably in the literature. Although white matter can be affected by many different processes, “leukodystrophy” is generally reserved for either abnormal formation of myelin or loss of previously formed myelin with an identified or presumed genetic basis. Genetic “leukoencephalopathies” are disorders with white matter changes secondary to other factors such as gray matter degeneration (lysosomal disorders, mitochondrial disorders) or congenital vascular disorders. The differential diagnosis also includes acquired causes of white matter dysfunction from infectious, inflammatory, nutritional, or neoplastic causes; medication; or a previous injury. When evaluating a patient with white matter changes on neuroimaging, these acquired disorders should be excluded based on the clinical history and specific testing; acquired causes require different management.