Çocuklarda Epileptik Ensefalopatiler

Yıl 2020, Cilt: 14 Sayı: 6, 538 - 546, 30.11.2020

Aydan Değerliyurt , Özlem Yayıcı Köken

https://doi.org/10.12956/tchd.727161

Öz

Epilepsi çocuklarda en sık karşılaşılan nörolojik sorunlardandır. Özellikle bebeklik ve çocuklukta başlayan bazı epilepsilerde daha sık olarak rastlanan epileptik ensefalopatilerde ise nöbetler ve yoğun epileptiform aktivitelere bağlı olarak nöropsikolojik gelişim olumsuz yönde etkilenir. Bu hastalarda devam eden ağır epileptiform aktivite ve nöbetler, normal nöronal ağların gelişimini engelleyerek epileptik ensefalopatinin ortaya çıkmasında rol oynarlar. Epileptik ensefalopatilere tüm yaş gruplarında rastlansa bile çocukluk gibi gelişimsel açıdan kritik bir dönemde ortaya çıkması sadece kazanılmış fonksiyonları değil, aynı zamanda yaşa bağlı olarak gelişmesi beklenen yeni fonksiyonları da olumsuz olarak etkileyeceği için bu yaş grubunda daha yıkıcı seyreder. Epileptik ensefalopatilerin erken tanı alması ve tedavinin erken dönemde başlanması, ortaya çıkacak gelişimsel sorunların -bazı hastalarda- önlenmesi potansiyelini barındırdığı için önemlidir. Etyolojide diğer nedenlerin yanında gittikçe artan sayılarda gen mutasyonlarının gösterilmesi nedeniyle son yıllarda genetik nedenler öne çıkmaktadır. Bu grup epileptik ensefalopatilerde nöbetler ve epileptiform bozuklukların yanı sıra genetik mutasyonun kendisine bağlı olarak da nörogelişimsel gerilikler bulunduğu için yeni bir kavram olarak gelişimsel ve epileptik ensefalopati terimi önerilmiştir.
Bu yazıda çocuklukta sık görülen West sendromu, Dravet sendromu gibi fenotipler ve konuşma geriliği veya gerilemesi, psikomotor gerileme, otistik semptomlar ile belirti veren ve bu nedenle dikkatli ayırıcı tanı yapılması gereken Landau-Kleffner ve CSWS sendromu başta olmak üzere tüm epileptik ve gelişimsel ve epileptik ensefalopatilerin karakteristik klinik özellikleri ve genetik etyolojiler yönünden yaklaşım amaçlanmıştır.

Anahtar Kelimeler

Epilepsi, , epileptik ensefalopati, , gelişimsel ensefalopati

Pediatric Epileptic Encephalopathies

Öz

Epilepsy is one of the most common neurologic problems encountered in children. Epileptic encephalopathies, which are more common in epilepsies with an onset in infancy and childhood, seizures and frequent epileptiform activities have a negative impact on neuropsychological development. Ongoing severe epileptiform activities and seizures impede the normal development of neural networks and cause epileptic encephalopathies. Although epileptic encephalopathies can be seen at every age, an onset in childhood, which is a critical period for development, can be detrimental since not only acquired functions but also expected new functions will be negatively effected. Early diagnosis and prompt treatment for epileptic encephalopathies is important since developmental problems can be prevented in some patients. In addition to other etiologies, genetic causes are becoming more prevalent secondary to gene mutations which are being detected more frequently. Developmental and epileptic encephalopathy is a new term which is being used to connote the neurodevelopmental retardation caused by the genetic mutation itself in addition to seizures and epileptiform activities.
This manuscript aims to evaluate the clinical features and etiological approach in all epileptic, developmental and epileptic encephalopathies such as mostly seen phenotypes like West syndrome and Dravet syndrome in addition to Landau-Kleffner and CSWS syndromes which require a careful differential diagnosis due to language retardation or deterioration, psychomotor retardation and symptoms of autism.

Anahtar Kelimeler

Epilepsy, Epileptic encephalopathy,, Developmental encephalopathy, Developmental regression

Kaynakça

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