Mirror Sendromu: Olgu sunumu ve Her İki Ebeveynde ABHD5 Geninde Mutasyon

Yıl 2024, , 27 - 31, 25.03.2024

Hatice Kansu Çelik , Melike Güler

https://doi.org/10.46969/EZH.1444618

Öz

Mirror sendromu, maternal ödemin ayna görüntüsü olarak yansıyan fetal ve/veya plasental hidrops ile komplike nadir görülen olağan dışı bir gebelik patolojisidir. Fetal hidrops, plasental büyüme ve maternal ödemle karakterize, preeklampsiye benzer semptom ve bulgulara yol açabilen ciddi bir hastalıktır. Maternal ve fetal mortalite ve morbidite riski yaratan ciddi bir hastalıktır. Patogenezi tam olarak anlaşılamamıştır. Bu yazıda bir Mirror sendromu olgusu sunulmakta, ebeveynlerde saptanan genetik mutasyon varlığı ve bu sendromun klinik önemi tartışılmaktadır.

Anahtar Kelimeler

Mirror sendromu, maternal ödem, fetal hidrops, plasental ödem, ABHD5

Mirror Syndrome: Case Report and Presence of Mutation in ABHD5 Gene in Both Parents

Öz

Mirror syndrome is a rare and unusual reproductive pathology complicated by fetal and/or placental hydrops reflected as a mirror image of maternal edema. Fetal hydrops is a serious disease characterized by placental enlargement and maternal edema, which can lead to symptoms and signs similar to preeclampsia. It is a serious disease that poses a risk of maternal and fetal mortality and morbidity. Its pathogenesis is not fully understood. In this article, a case of Mirror syndrome is presented, the presence of a genetic mutation detected in the parents and the clinical significance of this syndrome are discussed.

Anahtar Kelimeler

Mirror syndrome, maternal edema, fetal hydrops, placental edema, ABHD5 gene mutation

Kaynakça

• van Selm M, Kanhai HH, Gravenhorst JB. Maternal hydrops syndrome: a review. Obstet Gynecol Surv. 1991;46(12):785-8. https://doi.org/10.1097/00006254-199112000-00001
• Braun T, Brauer M, Fuchs I, et al. Mirror syndrome: a systematic review of fetal associated conditions, maternal presentation and perinatal outcome. Fetal Diagn Ther. 2010;27(4):191-203. https://doi.org/10.1159/000305096
• Finamore PS, Kontopoulos E, Price M, Giannina G, Smulian JC. Mirror syndrome associated with sacrococcygeal teratoma: a case report. J Reprod Med. 2007;52(3):225-7.
• Ordorica SA, Marks F, Frieden FJ, Hoskins IA, Young BK. Aneurysm of the vein of Galen: a new cause for Ballantyne syndrome. Am J Obstet Gynecol. 1990;162(5):1166-7. https://doi.org/10.1016/0002-9378(90)90008-u
• Chaoui R, Bollmann R, Hoffmann H, Zienert A, Bartho S. Ebstein anomaly as a rare cause of a non-immunological fetal hydrops: prenatal diagnosis using Doppler echocardiography. Klin Padiatr. 1990;202(3):173-5. https://doi.org/10.1055/s-2007-1025513
• Teles Abrao Trad A, Czeresnia R, Elrefaei A, Ibirogba ER, Narang K, Ruano R. What do we know about the diagnosis and management of mirror syndrome? J Matern Fetal Neonatal Med. 2022;35(20):4022-7. https://doi.org/10.1080/14767058.2020.1844656
• Mohamad Zon E, Nik Lah NAZ, Hoo PS. Late-Onset Mirror Syndrome. Malays Fam Physician. 2021;16(1):129-32. https://doi.org/10.51866/cr1099
• Gedikbasi A, Oztarhan K, Gunenc Z, et al. Preeclampsia due to fetal non-immune hydrops: mirror syndrome and review of literature. Hypertens Pregnancy. 2011;30(3):322-30. https://doi.org/10.3109/10641950903323244
• Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A. Chanarin-Dorfman syndrome. Turk J Gastroenterol. 2019;30(1):105-8. https://doi.org/10.5152/tjg.2018.18014
• Society for Maternal-Fetal Medicine (SMFM); Norton ME, Chauhan SP, Dashe JS. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015;212(2):127-39. https://doi.org/10.1016/j.ajog.2014.12.018