Prenatal Sonographic Diagnosis of Meckel-Gruber Syndrome: A Case Report

Year 2021, Volume: 5 Issue: 1, 110 - 113, 03.04.2021

Seyit Ahmet Erol Ayşe Kırbaş

https://doi.org/10.29058/mjwbs.788575

Abstract

Aim: We report a case in which the prenatal diagnosis of Meckel Gruber (MGS) syndrome was feasible
by ultrasonography in the first trimester
Case report: A 26 years old woman in her second pregnancy was referred to our perinatology clinic
at 13th gestational week with a suspicion of encephalocele. The fetal kidneys were hyperechogenic
and enlarged, consistent with bilateral cystic dysplasia. The hands were compatible with polydactyly.
According to the sonographic findings, our prenatal sonographic diagnosis was Meckel-Gruber
syndrome.
Conclusion: MGS is a lethal disorder. In addition, it is a pathology with a high risk of recurrence (25%)
due to its autosomal recessively inheritance. Especially in families with anomaly history in previous
pregnancies, early ultrasonographic evaluation and genetic counseling to be given to the family
afterwards are important in management.

Keywords

Encephalocele, polydactyly, dysplastic kidney

Meckel-Gruber Sendromunun Prenatal Sonografik Tanısı: Olgu Sunumu

Abstract

Amaç: Ultrasonografi ile erken dönem, ilk trimesterde Meckel-Gruber (MGS) sendromu prenatal tanısı
konulan olgu sunulmuştur.
Olgu sunumu: 26 yaşında ikinci gebeliği olan gebe hasta, ensefalosel şüphesiyle 13. gebelik haftasında
perinatoloji kliniğimize sevk edildi. Fetal böbrekler, bilateral kistik displazi ile uyumlu olarak hiperekojenik
ve genişlemişti. Ellerde polidaktili ile uyumlu görünüm izlendi. Ultrason bulgularımıza göre, prenatal
sonografik tanımız Meckel-Gruber sendromuydu.
Sonuç: MGS ölümcül bir hastalıktır. Ayrıca otozomal resesif geçişli olması nedeniyle tekrarlama riski
yüksek (%25) bir patolojidir. Özellikle daha önceki gebeliklerinde anomali öyküsü olan ailelerde erken
ultrasonografik değerlendirme ve sonrasında aileye verilecek genetik danışmanlık yönetimde önemlidir

Keywords

Ensefalosel, polidaktili, displastik böbrek

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