Prenatal dıagnosıs of meckel gruber syndrome presentıng wıth encephalocele: report of a case. Perinatoloji Dergisi 2005;13(2):s354-354
- Kahramanmaras Sutcu Imam University, Faculty of Medicine, Department of Obstetrics and Gynecology Kahramanmaras TR
- Zekai Tahir Burak Womens Health Education and Research Hospital, Department of Genetics- Ankara TR
- Gulhane Medical Military Academy, Department of Genetics- Ankara TR
- Zekai Tahir Burak Womens Health Education and Research Hospital, Department of Obstetrics and Gynecology- Ankara TR
M Güven, Kahramanmaras Sutcu Imam University, Faculty of Medicine, Department of Obstetrics and Gynecology Kahramanmaras TR,
Yayınlanma Tarihi: 01 Nisan 2005
Çıkar çakışması bulunmadığı belirtilmiştir.
To describe a case of Meckel-Gruber syndrome presenting prenatally with an extreme clinical picture consisting of encephalocele and severe oligohydroamnios.
Routine antenatal ultrasonographic examination at 15 weeks of gestation in a 21 years old woman revealed a posterior occipital encephalocele and severe oligohydramniosis, rising the suspicion of bilateral renal agenesis.
Postmortem fetal evaluation conŞrmed the prenatal findings and also revealed a small omphalocele and hepatic fibrosis, allowing the diagnosis of Meckel-Gruber syndrome.
Renal agenesis, omphalocele and encephalocele are frequently detected findings at prenatal diagnosis. Patients with at least two of the above findings in association have been described, but nearly all of such cases had additional dysmorphic features indicating a recognizable syndrome. The findings in our case were not concordant with any other recognizable syndrome, and liver fibrosis was detected at autopsy allowing the diagnosis of Meckel-Gruber syndrome. The concurrence of any kind of central nervous system abnormality and bilateral renal agenesis should initiate a search for fibrosis of the liver indicative of the Meckel-Gruber syndrome.