Journals / Perinatoloji Dergisi / 2004 / Cilt: 12 - Sayı: 2
Meckel-Gruber syndrome
- Journal
- Perinatoloji Dergisi
- Pages
- 99–101
- DOI
- —
Abstract
Objective: Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica) is a rarely seen syndrome which is trasmitted through autosomal recessive inheritance. The main caracteristics are multicystic disease of the kidneys, occipital encephalocele and polydactyly. Case: In our case, we have found polydactyly in both hands and in both feet, encephalocele and abnormalities in the kidneys through sonographic diagnose in the 17th week of pregnancy and therefore the pregnancy was ended. In the pathological anaysis of the fetus, in addition to the classical characteristics of Meckel-Gruber Syndrome, fibrozis in the hepatic portal tract and bile duct proliferation were found. Conclusion: This case which was diagnosed sonografically in prenatal period because of its rare characteristics, was presented .
Özet
Amaç: Meckel-Gruber sendromu (dysencephalia splanchnocystica), otozomal resesif geçişli multipl iç ve dış anomalilerin görüldüğü az rastlanan bir sendromdur. Başlıca karakteristik özellikleri multikistik böbrek hastalığı, oksipital ansefalosel ve polidaktilidir. Olgular: Olgumuzda gebeliğin 17. haftasında yapılan ultrason incelemesinde elde ve ayakta polidaktili, ansefalosel, bilateral multikistik böbrek anomalisi saptanarak gebelik sonlandırıldı. Fetusun patolojik incelemesinde Meckel-Gruber sendromunun klasik özelliklerine ek olarak hepatik portal traktta fibrozis ve safra kanal proliferasyonu saptandı. Sonuç: Prenatal dönemde ultrasonografik incelemeyle tanı konulan bu olgu ender görülmesi nedeniyle sunuldu.