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Journal of Pediatric Neurology 2021; 19(04): 276-278
DOI: 10.1055/s-0040-1718376
Case Report

Meckel–Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios

Paulo Ricardo Sousa Frota de Almeida 
1   Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
Sandra F. Centofanti 
1   Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
Rafael L. do Carmo 
2   Department of Neuroradiology, Grupo DASA, São Paulo-SP, Brazil
,
Bruno Shigueo Yonekura Inada 
1   Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
Victor Hugo Rocha Marussi 
1   Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
Leonardo F. Freitas 
1   Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
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Abstract

Meckel–Gruber syndrome (MGS) is a rare genetic condition determined by an autosomal recessive mutation and characterized by occipital cephalocele, postaxial polydactyly, and bilateral dysplastic cystic kidneys, besides many other findings. Antenatal ultrasonography can identify the major features, but in selected cases, magnetic resonance imaging (MRI) might help to obtain the correct diagnosis. We describe a well-documented case of MGS diagnosed by ultrasound in correlation with MRI findings.

Keywords

Meckel–Gruber syndrome - dysplastic kidneys - cephalocele


Publication History

Received: 16 July 2020

Accepted: 14 August 2020

Article published online:
05 October 2020

© 2020. Thieme. All rights reserved.

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