Trizomi 13’te Bildirilmemiş Bir Hepatobilier Sistem Anomalisi: Koledok Kisti

Abstract

Trizomi 13; Trizomi 21 ve 18’den sonra en sık görülen üçüncü otozomal trizomi olup kardiyak, genitoüriner, gastrointestinal ve santral sinir sistemini de içeren birçok malformasyona neden olur. Tanımlanmış ve iyi bilinen birçok malfosmasyona rağmen, trizomi 13’te yayınlanmış hepatobiliyer malformasyon nadirdir. Koledok kistine eşlik eden trizomi 13 ise daha önce bildirilmemiştir. Bu yazıda intestinal obstruksiyon ve kolestaz bulguları olan ve sonuç olarak koledok kisti tanısı alan bir trizomi 13 olgusunu sunmayı hedefledik. Klinisyenlerin benzer semptomlar gelişen trizomi 13 olgularında koledok kistini de ayırıcı tanıda düşünmeleri vurgulamak istenmiştir.

Keywords

• Koledok kisti, Trizomi 13

Unreported Abnormality of Hepatobiliary System in Trisomy 13: Choledochal Cyst

Abstract

Trisomy 13 is the third most common autosomal trisomy after trisomy 21 and 18. It is associated with malformations of genitourinary, gastrointestinal and central nervous system. Despite these broad range of malformations, there are few case reports regarding hepatobiliary system abnormalities. Choledochal cyst in association with trisomy 13 had not been reported yet. In this paper we aimed to present a case of trisomy 13, who had signs of intestinal obstruction and cholestasis and was diagnosed as choledochal cyst eventually. We conclude clinicans could consider choledochal cyst in cases of trisomy 13, presenting with gastrointestinal system obstruction

Keywords

• Choledochal cyst,Trisomy 13

References

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