Yenidoğan Konvülsiyonları
Özet
Yenidoğan dönemi konvülziyonları, 1.000 canlı doğumda 1,5–3 sıklığıyla karşılaşılan ve acil müdahale gerektiren önemli nörolojik tablolardandır. Bu dönemde NMDA ve AMPA eksitatör reseptörlerinin görece fazlalığı, GABAerjik inhibisyonun yetersizliği ve NKCC1 kotransporteri aracılığıyla GABAa reseptörlerinin paradoks eksitatör etki göstermesi nöbet yatkınlığını belirgin biçimde artırmaktadır. Etiyolojik açıdan hipoksik iskemik ensefalopati en sık neden olmakla birlikte; vasküler olaylar, santral sinir sistemi enfeksiyonları, serebral malformasyonlar, genetik kanalopetiler ve doğuştan metabolik bozukluklar da önemli bir yer tutmaktadır. 2021 yılında güncellenen ILAE sınıflaması çerçevesinde nöbetler elektrografik ve elektroklinik olarak ayrıştırılmakta; klinik sessizlik nedeniyle EEG ve video-EEG monitörizasyonu tanıda kritik öneme sahip olmaktadır. Elektroklinik sendromlar arasında iyi prognozlu benign neonatal epilepsi ile ağır seyirli Ohtahara sendromu ve erken miyoklonik ensefalopati öne çıkmaktadır. Tedavide düzeltilebilir metabolik nedenler öncelikli olarak ele alınmalı; farmakolojik tedavide fenobarbital birinci seçenek olarak uygulanmalıdır. Yanıt alınamayan olgularda fenitoin, levetirasetam ve midazolam tedavi seçenekleri arasında yer almaktadır. Erken ve doğru etiyolojik tanının uzun dönem nörolojik prognoz üzerindeki belirleyici rolü göz önüne alındığında, genetik ve metabolik testlerin zamanında yapılması büyük önem taşımaktadır.
Neonatal convulsions are significant neurological conditions requiring urgent intervention, with an incidence of 1.5–3 per 1,000 live births. The relative abundance of NMDA and AMPA excitatory receptors, insufficient GABAergic inhibition, and the paradoxical excitatory effect of GABAa receptors mediated through the NKCC1 cotransporter substantially increase seizure susceptibility during this period. From an etiological standpoint, hypoxic-ischemic encephalopathy represents the most common cause; however, vascular events, central nervous system infections, cerebral malformations, genetic channelopathies, and inborn errors of metabolism also play a significant role. Within the framework of the updated 2021 ILAE classification, seizures are distinguished as electrographic and electroclinical; due to clinical silence, EEG and video-EEG monitoring hold critical importance in diagnosis. Among electroclinical syndromes, benign neonatal epilepsy with favorable prognosis and severe-course conditions such as Ohtahara syndrome and early myoclonic encephalopathy are particularly prominent. In treatment, correctable metabolic causes should be addressed as a priority; phenobarbital should be applied as the first-line pharmacological agent. In cases without adequate response, phenytoin, levetiracetam, and midazolam are among the available treatment options. Given the decisive role of early and accurate etiological diagnosis on long-term neurological prognosis, timely genetic and metabolic testing is of great importance.
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