Atipik Rett Sendromu ve Otizm Birlikteliği

Yıl 2015, Cilt: 5 Sayı: 4, 228 - 231, 17.12.2015

Hilal Aydın , Nimet Kabakuş Mustafa Erkoçoğlu

Öz

Rett sendromu (RS) nörogeliıimsel bozukluklar arasşnda yer alan ve değiıik nöropsikiyatrik bulgular gösterebilen nörodejeneratif bir hastalşktşr. Bu sendroma sahip bebekler 6-18 aya kadar normalken, sonrasşnda nöromotor retardasyon ve sterotipik el hareketleri görülmektedir. Bu yazşmşzda çeıitli merkezlerde uzun süreli takiplerinde otizm, serebral palsi, nörometabolik hastalşk ön tanşlarş ile izlenen ve kliniğimizde atipik Rett sendromu tanşsşnş alan olgumuz sunuldu. ( Sakarya Med J 2015, 5(4):228-231 )

Anahtar Kelimeler: MECP2 heterozigot gen mutasyonu Otizm Atipik Rett sendromu

Anahtar Kelimeler

MECP2 heterozigot gen mutasyonu, Otizm, Atipik Rett sendromu

Kaynakça

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