Kortikal Gelişim Malformasyonları
Özet
Kortikal gelişim malformasyonları, insan serebral korteksinin embriyolojik gelişim sürecindeki bozukluklardan kaynaklanan ve genellikle nörogelişimsel gecikme ile epilepsiye yol açan heterojen bir hastalık grubudur. Tanı süreci büyük ölçüde nörogörüntüleme yöntemlerine dayanmakta olup, bu yöntemler genetik ve klinik bulgularla desteklenmektedir. Malformasyonlar, gelişimsel süreçteki hücre proliferasyonu, nöronal göç ve göç sonrası olgunlaşma aşamalarındaki aksaklıklara göre üç ana grupta sınıflandırılmaktadır. Güncel sınıflandırmalar, gelişen teknoloji ve yeni mutasyonların keşfiyle birlikte daha çok genetik temellere ve patofizyolojik mekanizmalara dayanmaktadır.
Malformations of cortical development (MCD) represent a heterogeneous group of disorders arising from disturbances in the embryological processes of the cerebral cortex, frequently leading to neurodevelopmental delays and epilepsy. Diagnosis primarily relies on advanced neuroimaging techniques, which are often complemented by clinical phenotyping and genetic analysis. These malformations are classified into three main groups based on the underlying developmental stage disruption, specifically involving abnormal cell proliferation, neuronal migration, or post-migration maturation. Current classification systems are increasingly grounded in emerging genetic insights and the understanding of precise pathophysiological mechanisms.
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