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

Öz

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.

Anahtar Kelimeler

• Encephalocele
• polydactyly
• dysplastic kidney

Meckel-Gruber Sendromunun Prenatal Sonografik Tanısı: Olgu Sunumu

Öz

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

Anahtar Kelimeler

• Ensefalosel
• polidaktili
• displastik böbrek

Kaynakça

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