Selda Demircan SEZER, Mert KÜÇÜK, Hasan YÜKSEL, Ali Rıza ODABAŞI, Hamit Alper TANRIVERDİ, Gökay BOZKURT, Canten TATAROĞLU, Ece KESKİN

NADİR GÖRÜLEN BİR FETAL ANOMALİ, MECKEL-GRUBER SENDROMU: OLGU SUNUMU

AMAÇ:Otozomal resesif geçişli bir hastalık olan Meckel-Gruber Sendromu (MGS), multipl konjenital anomaliiçeren 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. Buyazıda intrauterin MGS saptanan bir olgu sunulmasını amaçladık.OLGU:Son adet tarihine göre 23 hafta 5 günlük gebelik + multipl fetal anomali nedeni ile gebe polikliniğimizerefere edilen olgu obstetrik ultrasonografi ile değerlendirildi. Yaşayan 2 sağlıklı çocuğu olan 26 yaşındakiolgunun hikayesinden, daha önce 32. gebelik haftasında ölü doğum öyküsü olduğu, nedeninin bilinmediği amapolidaktilisi bulunduğu öğrenildi. Olgunun yapılan ultrasonunda fetal bilateral multikistik displastik böbrek, heriki elde polidaktili, bilateral ventrikülomegali ve anhidroamniyos saptandı. MGS düşünülen ve anhidramniyosuolan gebeye konsey kararı sonucu ve ailenin isteği ile tıbbi tahliye uygulandı. 750 gram ağırlığında bir erkekbebek ölü olarak doğurtuldu. Genetik incelemesi yapılan fetusun kromozom analizi normal (46, XY) olarakgeldi. 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 sistemimalformasyonları ve polidaktili araştırması yapılmalıdır. Bununla birlikte fetal otopsinin tanınındoğrulanmasında önemlidir

Anahtar Kelimeler:

Meckel-Gruber Sendromu, prenatal ultrasonografi

Meckel-Gruber Syndrome, a Rare Fetal Anomaly: A Case Report

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.

Keywords:

Meckel-Gruber syndrome, prenatal ultrasonography,

PDF

___

1. Meckel JF. Beschreibung zweier, durch sehr aehnliche. Bildungsabweichungen entsellter Geschwister Dutsch. Arch Physiol 1822; 7: 99-172.
2. Gruber GB. Beitraege zur frage ''gekoppelter'' missbildungen (akrocephalo-syndactylie und dysencephalia splanchnocystica). Beitr Path Anat 1934; 93: 459-76.
3. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia spanchnocystica, the Grüber syndrome). Birth Defects OrigArt Ser 1969;2:167-79.
4. Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF. MeckelGrüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol 2006;27(3):296-300.
5. Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 2000;3:568-83.
6. Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol 2007;46(1):9-14.
7. Balci S, Tekşen F, Dökmeci F, Cengiz B, Cömert RB, Can B, Ozdamar S.Prenatal diagnosis of MeckelGruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation. Turk J Pediatr 2004;46(3):283-8.
8. Ergür AT, Taş F, Yildiz E, Kilic F, Sezgin I. Meckelgruber syndrome associated with gastrointestinal tractus anomaly. Turk J Pediatr 2004;46(4):388-92.
9. Agapitos E, Christodoulou C. Meckel-Gruber syndrome associated with Rokintasky-Kuster-Hauser Syndrome. J Clin Ultrasound 1995;23:452-5.
10. Malguria N, Merchant SA, Kiran KV, Verghese SL. Meckel-Gruber syndrome associated with short limbed dwarfism. J Postgrad Med 1996;42(2):55-6.
11. Akgün H, Özgün MT, Taşdemir A, Aydın A, Türkyılmaz Ç, Başbuğ M. Meckel Gruber Syndrome: Correlation between prenatal diagnosis and autopsy findings. Gynecol Obstet Reprod Med 2008;14:7-11.
12. Tanriverdi HA, Hendrik HJ, Ertan K, Schmidt W. Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case. Eur J Ultrasound 2002;15(1-2):69- 72).