Diagnostic work-up in malformations of cortical development

Abstract

Malformations of cortical development (MCDs) are a group of disorders where the brain's outer layer, the cerebral cortex, does not develop as expected. These conditions can usually be identified using imaging techniques, but some subtle issues, like focal cortical dysplasia (an area of abnormal brain cell [neuron] organization and development), may only be found through more detailed brain tissue examination.

MCDs include different types, such as lissencephaly (smooth brain), heterotopia (misplaced brain tissue), cobblestone malformation, polymicrogyria (too many small folds), and dysgyria (abnormal folds). Many MCDs are caused by genetic factors, but some can also result from conditions like congenital cytomegalovirus infections or factors related to twinning.