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Journals / Türk Jinekoloji ve Obstetrik Derneği Dergisi / 2009 / Cilt: 6 - Sayı: 2

A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

Prenatal tanısı konmuş Cantrell pentalojisi olgusu: Ensefaloselin eşlik ettiği nadir bir varyant

Ayhan COŞKUN
Serdar CEYLANER
Melih Atahan GÜVEN
Gülay CEYLANER
Hakan BAYAZIT
Pages
123–127
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

📌 3 Key Takeaways

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Objective & Hypothesis:AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect.CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly.
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Key Findings & Data:We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography.
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Conclusion & Impact:Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect.CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings.CONCLUSION: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

Özet

AMAÇ: 20. gebelik haftasında prenatal tanısı konan ve post mortem otopsi ile doğrulanan, nöral tüp defektinin eşlik ettiği Cantrell Pentalojisi olgusunu sunmak. OLGU: Sternum altı ve anterior diyafragmada defekt ile meydana gelen omfalosel, perikardiyumun yokluğu ve kalp anomalisi ile seyreden bu sendromun prenatal dönemde yapılan ultrasonografisinde; ensefalosel ve kalbi de (tam atrio-ventriküler septal defekt ile) içine alan büyük bir omfalosel izlendi. Gebelik öyküsünde herhangi bir ilaç alımı, akraba evliliği veya toksin maruziyeti tespit edilmedi. Bu malformasyonun yaşamla bağdaşmaması nedeniyle aileye bilgi verildi. Yazılı bilgilendirilmiş onay alındıktan sonra gebelik indüklenerek vajinal yoldan termine edildi. Doğumu takiben yapılan post mortem genetik incelemede, prenatal tanı doğrulandı. SONUÇ: Ultrasonografi ile omfalosel tanısı kolaylıkla konulabilmekte olup, buna kalp anomalilerinin eşlik ettiği olgularda Cantrell Pentalojisi hatırlanmalıdır. Ensefalosel ve diğer tip nöral tüp defektleri bu hastalığa oldukça nadir olarak eşlik etmekte olup literatürde 20’den az vaka bildirilmiştir.

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Cite This Article

COŞKUN, A., CEYLANER, S., GÜVEN, M. A., CEYLANER, G., BAYAZIT, H. (2022). A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant. Türk Jinekoloji ve Obstetrik Derneği Dergisi, Cilt: 6 - Sayı: 2, 123–127. https://ajindex.com/articles/631681

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