2012-05-09-12 Meckel-Gruber syndrome ©Fabrice Cuillier www.TheFetus.net
Meckel-gruber syndrome at 12 weeks
Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion’ Island, France.
This is a 26-year-old-woman, G3P2, with no known obstetric risk factors and with no relevant medical history.
Serial ultrasound scans revealed:
- The first scan was performed at 12 weeks, in our antenatal unit.
- Abnormal brain (Figure 1-3)
- Occipital meningocele (Figure 4-6).
- 3D-ultrasound showed easily the occipital bone defect (Figure 7).
- Bilateral dysplasia kidney. Abnormal kidney was evident at 13 weeks (Figure 8, 9, 11, 12).
- Empty bladder (Figure 10).
- Polydactyly was not present, nevertheless.
- Nuchal translucency was 1 mm (CRL: 54mm).
Meckel-Gruber syndrome was suspected. The patient decided to end pregnancy at 14 weeks. The karyotype was 46 XX.
Post-mortem examination revealed occipital encephalocele. The kidney dystrophy and hepatic fibrosis suggested Meckel syndrome.
The diagnosis was confirmed by our cytogeneticist.
Figure 1-3: Abnormal brain
Figure 4-6: Occipital meningocele
Figure 7: Occipital bone defect
Figure 8, 9, 10: Bilateral dysplasia kidney
Figure 11, 12: Abnormal kidneys were more apparent a week later