Meckel-gruber syndrome at 12 weeks

Fabrice Cuillier, MD

Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion’ Island, France.

Case report:

This is a 26-year-old-woman, G3P2, with no known obstetric risk factors and with no relevant medical history.

  • The first scan was performed at 12 weeks, in our antenatal unit.

Serial ultrasound scans revealed:

  • 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

1A
1B
1C

Figure 4-6: Occipital meningocele 

2B
2D
2A

Figure 7:  Occipital bone defect  

3B

Figure 8, 9, 10:  Bilateral dysplasia kidney 

4B
4C
4D

Figure 11, 12: Abnormal kidneys were more apparent a week later

5D
5E

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