[PCL] Pre-congress Lectures

[PCL-3] The Etiologic Diagnosis and Its Significance in Childhood Epilepsy

^○Jiong QIN (Department of Pediatrics, Peking University People’s Hospital, Beijing, China)

The etiology of epilepsy is a major determinant of the clinical course and prognosis, thus constitutes one of the most important dimensions in modern diagnostic framework of epileptology. The causes of epilepsy were classified as idiopathic, symptomatic and cryptogenic, proposed by the International League Against Epilepsy (ILAE) for decades. To reflect the great advances and to meet the practical request, ILAE Commission on Classification and Terminology recommended a new classification frame for the underlying types of causes (etiology) in 2010. Four main categories were genetic, structural, metabolic, and unknown causes. Immune and Infectious causes were added to the categories afterwards, making a system with 6 groups of causes, i.e. genetic, structural, metabolic, immune, infectious and unknown causes. The rapid development of neuroimagine, MRI in particular, plays an important role in the identification of brain structural lesions. More patients, esp. those young infants, were thus early diagnosed focal malformations like cortical dysplasia (CD); and the outcome of their drug-resistant epilepsies might therefore get improved by possibly early surgical intervention. There are also many MRI negative cases of intractable epilepsy, post-operational histopathology confirmed a diagnosis of focal cortical dysplasia.
Besides, the advances in molecular genetics, next generation sequencing technology and the metabonomics, make more and more complex genetic causes clear. Overall, the identification of etiology is a crucial step in the diagnosis and evaluation of childhood epilepsy. It is more important for those intractable cases, as some of them can be target treated. Related advances will be reviewed and discussed.