Faruk İNCECİK, Özlem M HERGÜNER, Gülen MERT, Şakir ALTUNBAŞAK

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

Trizomi 9 sendromu, nadir görülen genetik bir bozukluktur. Trizomi 9 sendromu 2 forma sahiptir; 1) mozaik, 2) non-mozaik. Hastalar genellikle mozaisizm varlığından bağımsız olarak büyüme geriliği, mental retardasyon, serebral, yüz, kardiyak, renal ve iskelet anomalileri gibi benzer bulgular ile gelirler. Literatür bilgilerimize göre trizomi 9 mozaisizminde en sık görülen nörolojik semptom, gelişme geriliği ve mental retardasyondur. Literatürde epilepsinin bu sendrom ile ilişkisi bulunamadı. Trizomi 9 mozaisizmi saptanan, dismorfik özellikleri ve nöbetleri olan 10 yaşında bir erkek çocuk bildirdik.

Anahtar Kelimeler:

Trizomi 9 mozaisizm, Gelişme geriliği, Epilepsi, Çocuklar

Trisomy 9 Mosaicism Presenting with Epilepsy, and Facial Dysmorphism: A Case Report

Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency and brain, facial, cardiac, renal and skeletal abnormalities. Developmental delay and mental retardation are the most common neurological symptom in trisomy 9 mosaicism in our knowledge. Epilepsy associated with this syndrome has not found in literature. We describe a 10-year-old boy with trisomy 9 mosaicism who presented seizures, and dysmorfic features.

Keywords:

Key Words: Trisomy 9 mosaicism, Developmental delay, Epilepsy, Children,

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Yazışma Adresi / Address for Correspondence: Dr. Faruk İNCECİK Cukurova University Faculty of Medicine Pediatric Neurology Department of Pediatricsı 01330 Balcalı-ADANA
Email: fincecik@yahoo.com geliş tarihi/received :26.08.2013 kabul tarihi/accepted:16.09.2013