MECP2 mutasyonu saptanan Rett sendromu tanılı pediatrik hastalarin klinik ve nöbet özelliklerinin değerlendirilmesi

Öz

Rett sendromu, büyük oranda kızlarda  görülen nörogelişimsel bir bozukluktur. X kromozomu üzerindeki metil CpG bağlayıcı protein 2 (MECP2) genindeki mutasyonların bir sonucu olarak ortaya çıkar. Hastalık kendini 6-18 ay arası normal gelişim basamaklarının tamamlanmasının ardından gelişen psikomotor gerilik ve amaçsız el hareketleriyle gösterir. Sıklıkla mikrosefali eşlik eder. Rett sendromu tanısı klinik bir tanıdır ve moleküler analiz tanı için destekleyici bir unsurdur. Bu çalışmada, üçüncü basamak pediatrik nöroloji kliniğimizde izlenen Rett Sendromu tanılı 9 hastanın nöbetlerini ve klinik özelliklerini araştırdık. Artan farkındalık, özellikle otizm ve mikrosefali ile başvuran kız hastalara erken tanı ve uygun tedavi sağlarken, tanı için gereksiz  testlerin yapılmasını da önler.

Anahtar Kelimeler

• Rett sendromu
• MECP2 Mutasyonu
• Pediatrik

Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation

Öz

Rett syndrome is a neurodevelopmental disorder largely seen in girls. It occurs as a result of the mutations in methyl CpG binding protein 2 (MECP2) gene on X chromosome. The disease shows itself with psychomotor retardation and purposeless hand movements that are developed after normal development stages between months 6-18. It is frequently accompanied by microcephalia. Rett syndrome diagnosis is a clinical diagnosis, and molecular analysis is a supportive element for diagnosis. In this study, we have investigated seizures and clinical features of 9 patients monitored in our third line pediatric neurology clinic with Rett Syndrome diagnosis. Increased awareness provides early diagnosis and suitable treatment for female patients applied with otism and microcephalia in particular, and it is also important for preventing unnecessary diagnostic tests.

Anahtar Kelimeler

• Rett syndrome
• MECP2 mutation
• pediatric

Kaynakça

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