Meckel-gruber syndrome, a rare fetal anomaly: A case report

Objective & Hypothesis:OBJECTIVE: Meckel-Gruber Syndrome (MGS), an autosomal recessive disease, is a rare and lethal syndrome with congenital polymalformations.

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Key Findings & Data:In this article, we aimed to present a case with intrauterine MGS.CASE: Yirmiüç weeks 5 days pregnant patient according to last menstrual period who was referred to our outpatient clinic with multiple anomalies was evaluated by obstetric ultrasonography.

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Conclusion & Impact:Furthermore verification of the diagnosis with fetal autopsy is important.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

OBJECTIVE: Meckel-Gruber Syndrome (MGS), an autosomal recessive disease, is a rare and lethal syndrome with congenital polymalformations. Classical triad of MGS, are bilateral cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. The existence of at least two of these three is essential for diagnosis. In this article, we aimed to present a case with intrauterine MGS.CASE: Yirmiüç weeks 5 days pregnant patient according to last menstrual period who was referred to our outpatient clinic with multiple anomalies was evaluated by obstetric ultrasonography. The obstetric history of the 26-year-old patient revealed 2 healthy living children and previous intrauterine ex fetus with polydactyly at 32 weeks of gestation but the cause was unknown. Ultrasonographic examination of the case revealed fetal bilateral multicystic dysplastic kidney, both hands with polydactyly, bilateral ventriculomegaly and anhidroamnios. The case with anhidramnios was thought to be MGS, and underwent medical evacuation according to the council decision and with family's request. An ex male infant weighing 750 grams was delivered. Genetic analysis showed normal chromosome analysis (46, XY). Bilateral polycystic kidneys, and polydactyly of both hands and feet and microgynathy was found in autopsy results.CONCLUSION: Prenatal diagnosis of bilateral enlarged multicystic kidneys should remind MGS and central nervous system malformations and polydactyly research should be conducted. Furthermore verification of the diagnosis with fetal autopsy is important.

Özet

Otozomal resesif geçişli bir hastalık olan Meckel-Gruber Sendromu (MGS), multipl konjenital anomali içeren nadir bir hastalıktır ve letal seyreden bir sendromdur. MGS'nin klasik triadı; bilateral kistik renal displazi, oksipital ensefalosel ve postaksiyal polidaktilidir. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Bu yazıda intrauterin MGS saptanan bir olgu sunulmasını amaçladık.OLGU: Son adet tarihine göre 23 hafta 5 günlük gebelik + multipl fetal anomali nedeni ile gebe polikliniğimize refere edilen olgu obstetrik ultrasonografi ile değerlendirildi. Yaşayan 2 sağlıklı çocuğu olan 26 yaşındaki olgunun hikayesinden, daha önce 32. gebelik haftasında ölü doğum öyküsü olduğu, nedeninin bilinmediği ama polidaktilisi bulunduğu öğrenildi. Olgunun yapılan ultrasonunda fetal bilateral multikistik displastik böbrek, her iki elde polidaktili, bilateral ventrikülomegali ve anhidroamniyos saptandı. MGS düşünülen ve anhidramniyosu olan gebeye konsey kararı sonucu ve ailenin isteği ile tıbbi tahliye uygulandı. 750 gram ağırlığında bir erkek bebek ölü olarak doğurtuldu. Genetik incelemesi yapılan fetusun kromozom analizi normal (46, XY) olarak geldi. Otopsi sonucunda bilateral polikistik böbrek, her iki el ve ayaklarda polidaktili ve micrognati mevcuttu.SONUÇ: Prenatal bilateral genişlemiş multikistik böbrek tanısı MGS'yi akla getirmelidir ve santral sinir sistemi malformasyonları ve polidaktili araştırması yapılmalıdır. Bununla birlikte fetal otopsinin tanının doğrulanmasında önemlidir.

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Cite This Article

SEZER, S. D., KÜÇÜK, M., YÜKSEL, H., ODABAŞI, A. R., TANRIVERDİ, H. A. (2022). Meckel-gruber syndrome, a rare fetal anomaly: A case report. Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi, Cilt: 12 - Sayı: 2, 37–40. https://ajindex.com/articles/428916

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