A Case of Sotos Syndrome With Congenital Sacrococcygeal Teratoma

Year 2019, , 44 - 46, 01.11.2019

Mustafa Tarık Alay , Aysel Kalaycı Yiğin , Filiz Özdemir Uğur Gümüş Zeynep Ocak , Mehmet Seven

https://doi.org/10.38175/phnx.634229

Cited By: 1

Abstract

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.

Keywords

Congenital Teratoma, Sotos Syndrome, NSD1 gene, Molecular Analyses

Konjenital Sakrokoksigeal Teratomlu Bir Sotos Sendromu Vakası

Abstract

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.

Keywords

Konjenital Teratom, Sotos Sendromu, NSD1 geni, Moleküler Analiz

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