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Open Access Case report

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

Alexander Puzik1*, Deborah J Morris-Rosendahl23, Klaus-Dieter Rückauer4, Claudia Otto5, Peter Gessler6, Ulrich Saueressig78 and Roland Hentschel1

Author Affiliations

1 Department of Pediatrics, Albert-Ludwigs-University of Freiburg, Mathildenstrasse 1, D 79106 Freiburg, Germany

2 Institute of Human Genetics, Albert-Ludwigs-University of Freiburg, Breisacher Strasse 33, D 79106 Freiburg, Germany

3 National Heart and Lung Institute, Imperial College, London SW3 6LY United Kingdom

4 Department of Pediatric Surgery, Albert-Ludwigs-University of Freiburg, Hugstetter Strasse 55, D 79106 Freiburg, Germany

5 Institute of Pathology, Albert-Ludwigs-University of Freiburg, Breisacher Strasse 115a, D 79106 Freiburg, Germany

6 Department of Pediatrics, Klinikum Konstanz, Luisenstrasse 7, 78464 Konstanz, Germany

7 Institute of Radiology, Albert-Ludwigs-University of Freiburg, Hugstetter Strasse 55, D 79106 Freiburg, Germany

8 Department of Radiology, Kreiskrankenhaus Emmendingen, Gartenstraße 44, 79312 Emmendingen Germany

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BMC Pediatrics 2014, 14:13  doi:10.1186/1471-2431-14-13

Published: 17 January 2014

Abstract

Background

In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.

Case presentation

Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.

Conclusion

Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.

Keywords:
Preterm infant; Meconium ileus; Cystic fibrosis; Mutation; Disease modifying gene locus; Surgery