Next-generation sequencing and its clinical application in leukoencephalopathies and other pediatric neurological disorders

White matter abnormalities of the central nervous system (CNS) include acquired diseases such as multiple sclerosis and acute demyelinating encephalitis (ADEM), as well as monogenetic leukoencephalopathies or leukodystrophies. Leukoencephalopathies are a highly heterogeneous group of rare disorders. The clinical manifestation usually occurs in early childhood but ranges from the intrauterine period to later adulthood. Clinical leading symptoms are sudden or gradual loss of already acquired motor and cognitive skills, visual and hearing impairment, as well as cerebral seizures.