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Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

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Abstract

Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. Death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age. Conclusion:molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).

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Abbreviations

cbEGF :

calcium binding EGF motif

CCA :

congenital contractural arachnodactyly

EGF :

epidermal growth factor

FBN1 :

fibrillin-1 gene

FBN2 :

fibrillin-2 gene

MFS :

Marfan syndrome

nMFS :

neonatal Marfan syndrome

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Acknowledgements

The authors are grateful to Dr. H. Vincke for referring the patient and to Prof. Dr. Ph. Clapuyt for radiological examination. This work was supported by the Fonds de la Recherche Scientifique Médicale grant 7.45 77 98 to G. Quenum and by the FWO grant G.0290.02 to A. De Paepe for molecular studies.

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Authors and Affiliations

  1. Center for Human Genetics and Medical Genetics Unit, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Av. Mounier 5220, 1200 , Brussels, Belgium

    Nicole Revencu, Geneviève Quenum & Christine Verellen-Dumoulin

  2. Paediatric Intensive Care Unit, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium

    Thierry Detaille

  3. Division of Neonatology, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium

    Gaston Verellen

  4. Centrer for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Anne De Paepe

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  1. Nicole Revencu
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Correspondence to Nicole Revencu.

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Revencu, N., Quenum, G., Detaille, T. et al. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Eur J Pediatr 163, 33–37 (2004). https://doi.org/10.1007/s00431-003-1330-8

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  • DOI: https://doi.org/10.1007/s00431-003-1330-8

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