Improve the understanding of childhood inherited leukodystrophies / 中华实用儿科临床杂志

ABSTRACT

Childhood inherited leukodystrophies are common and diagnostic challenge disorders in inherited metabolic diseases.The rate of definite diagnosis of these diseases is lower,the early diagnosis is difficult,and the clinicians lack awareness for it.With the development of head imaging technology and the application of high-throughput gene sequencing technology,the list of inherited leukodystrophies has been increased to more than one hundred typies.Now,the classification,clinical features,specific biochemical tests and imaging characteristics of inherited leukodystrophies are reviewed,and the application of high-throughput sequencing in the diagnosis of these diseases in order to improve understanding of childhood inherited leukodystrophies are introduced.