A Case of Sotos Syndrome With Congenital Sacrococcygeal Teratoma

Öz

Sotos syndrome is one of the most common overgrowth syndromes. It was first described by Juan Sotos in 1964. The incidence has been reported 1: 14,000. Major findings of the diseases include overgrowth associated with advanced bone age, learning disability, and specific facial dysmorphism. Although most of the cases are sporadic, cases with autosomal dominant inheritance have also been reported. The NSD1 gene associated with the disease is localized to the q35 region of chromosome 5. The likelihood of symptoms, such as tumors, hypermetropia, strabismus, and hypoglycemic attacks are quite unlikely. However, it is recommended that all patients be monitored for tumors such as teratoma and neuroblastoma. In this article, we present a rare case of Sacrococcygeal teratoma diagnosed with Sotos syndrome in our center.

Anahtar Kelimeler

• Congenital Teratoma,Sotos Syndrome,NSD1 gene,Molecular Analyses

Konjenital Sakrokoksigeal Teratomlu Bir Sotos Sendromu Vakası

Öz

Sotos sendromu aşırı büyüme sendromları arasında yer alır. İlk defa Juan Sotos tarafından 1964 yılında tanımlanmıştır. Görülme sıklığı 1:14.000 olarak bildirilmiştir. Hastalığın major bulguları: İlerlemiş kemik yaşının eşlik ettiği aşırı büyüme, öğrenme güçlüğü ve kendine özgü fasial dismorfizmdir. Vakaların çoğu sporadik olmakla birlikte otozomal dominant olarak kalıtılan olgular da rapor edilmiştir. Hastalıkla ilişkilendirilen NSD1 geni 5. Kromozomun q35 bölgesine lokalize olmuştur. Tümör, hipermetropi, strabismus ve hipoglisemik atak gibi bulguların görülme olasılığı oldukça düşüktür. Buna rağmen, bütün hastaların teratom ve nöroblastom gibi tümörler açısından izlenilmesi önerilmektedir. Bu makalede merkezimizde Sotos sendromu tanısı konulan ve nadir görülen Sakrokoksigeal teratomla seyreden  bir olgu sunulacaktır.

Anahtar Kelimeler

• Konjenital Teratom,Sotos Sendromu,NSD1 geni,Moleküler Analiz

Kaynakça

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