Gelişimsel Nörolojik Anomalilerin Doğum Öncesi Tanısı
Özet
Beyin konjenital malformasyonları; genetik, enfeksiyöz veya vasküler nedenlerle fetal dönemde gelişen yapısal bozuklukları kapsar ve kortikal gelişim anomalileri, holoprozensefali, Chiari malformasyonları ile serebellar defektler gibi geniş bir spektrumda incelenir. MR görüntüleme, bu anomalilerin ayırıcı tanısında; korpus kallozum yokluğu, gri cevher heterotopileri, şizensefali ve arka çukur bozuklukları gibi spesifik radyolojik bulguları saptayarak cerrahi veya medikal tedavi planlamasında kritik rol oynar. Özellikle nöronal migrasyon ve proliferasyon hataları sonucunda ortaya çıkan bu tablolar, hastalarda nöbet, motor gerilik ve kognitif defisitler gibi ciddi klinik semptomlara yol açar.
Congenital brain malformations encompass a wide spectrum of structural disorders such as cortical development anomalies, holoprosencephaly, Chiari malformations, and cerebellar defects, arising from genetic, infectious, or vascular causes during the fetal period. MRI plays a critical role in the differential diagnosis of these anomalies by detecting specific radiological findings like corpus callosum agenesis, gray matter heterotopias, schizencephaly, and posterior fossa abnormalities, which guide surgical or medical treatment planning. These conditions, resulting specifically from neuronal migration and proliferation errors, lead to severe clinical symptoms in patients, including seizures, motor delays, and cognitive deficits.
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