providing multiorgan transplantation, for example .
WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with episodes of acute liver failure. Molecular genetic testing confirms the diagnosis. Early diagnostics is recommended in order to ensure rapid intervention for episodes of hepatic failure, which is the most life threatening complication.
We thank Drs. Kachor L.A., Sichkaruk L.V. and Globa Y.V. for providing clinical information and blood samples of the WRS patient. We thank the Exeter University Laboratory, UK, for genetic identification of diagnosis.
The study was presented: 55th ESPE annual meeting, 10-12 September, Paris, France
Patient’s consent for publication has been granted
Contribution of authors must be listed on a separate form.
The authors contributed equally to this article. They read and approved the final version of the manuscript.
The authors declare that they have no competing interests
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