Malformations of cortical development (MCDs) encompass disorders that result from abnormalities affecting the normal processes of cortical development, also called the “gray matter”. Their classification is based on the stages of development in which the process is altered for the first time, taking into account the underlying genes and the interrupted biological pathways, and, in the absence of more objective data, on neuroimaging characteristics. In this way, two main groups can be distinguished: neuronal migration disorders and alterations in neuronal proliferation.
One of the malformations affecting the form and structure of the cerebellum that should be highlighted is pontocerebellar hypoplasia.
In all of them, the clinical presentation is highly variable, and they are often associated with psychomotor delay, intellectual disability, and epilepsy.
Through ClientSite you can filter variants and download your reports
