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

References

• 1. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia spanchnocystica, the Grüber syndrome) Birth Defects 1969;2:167-179.
• 2. Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: Pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006;130(8):1236-1238.
• 3. Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet 2012;286(4):917-921.
• 4. Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O. Meckel Gruber syndrome: A case diagnosed in utero. Turk J Pediatr 1992;34(3):179-185.
• 5. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber Syndrome: An update on diagnosis, clinical management, and research advances. Front Pediatr 2017;5:244.
• 6. Khurana S, Saini V, Wadhwa V, Kaur H. Meckel-Gruber syndrome: Ultrasonographic and fetal autopsy correlation. J Ultrasound 2017;20(2):167-170.
• 7. Leneuve-Dorilas M, Ahounkeng Nanda P, Deshayes JL. Meckel-gruber syndrome: About an evocative case in French Guiana-When ultrasound is insufficient for accurate diagnosis in a complex syndrome. Clin Case Rep 2020;8(3):433-436.
• 8. Roy J, Pal M. Meckel gruber syndrome. J Clin Diagn Res 2013;7(9):2102-2103.
• 9. Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Meckel-Gruber Syndrome: A population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet 2015;23(6):746-752.
• 10. Zhang M, Chang Z, Tian Y, Wang L, Lu Y. Two novel TCTN2 mutations cause Meckel-Gruber syndrome. J Hum Genet 2020;65(11):1039-1043.
• 11. Barker AR, Thomas R, Dawe HR. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis 2014;10(1):96- 107.
• 12. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997;101(1):88-92.
• 13. Jones D, Fiozzo F, Waters B, McKnight D, Brown S. Firsttrimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol 2014;44(6):719-721.
• 14. Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Mol Genet Genomic Med 2019;7(5):e614.
• 15. Salonen R. The Meckel syndrome: Clinicopathological findings in 67 patients. Am J Med Genet 1984;18(4):671-189.
• 16. Sel G. Meckel-Gruber Syndrome, case-report. JJ Clin Case Rep 2018; 5(4): 037.
• 17. Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Proc Natl Acad Sci USA 2012;109(42):16951-16956.