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Childhood Leukodystrophies: A Literature Review of Updates on New Definitions, Classification, Diagnostic Approach and Management Publisher Pubmed



Ashrafi MR1 ; Tavasoli AR1
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  1. 1. Department of Child Neurology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Brain and Development Published:2017


Abstract

Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one hundred disorders. During the last three decades, the basic concepts and definitions, classification, diagnostic approach and medical management of these disorders much have changed. Pattern recognition based on brain magnetic resonance imaging (MRI), has played an important role in this process. We reviewed the last Global Leukodystrophy Initiative (GLIA) expert opinions in definition, new classification, diagnostic approach and medical management including emerging treatments for pediatric leukodystrophies. © 2017 The Japanese Society of Child Neurology
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