Mol Cell Probes 2019 06 15;45:89-93. Epub 2019 Mar 15.
University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany. Electronic address:
Single gene (Mendelian) disorders are one of the leading causes of neonatal morbidity and mortality. However, in the setting of preterm birth phenotypic features of genetic diseases are often undifferentiated and are clinically very difficult to interpret based on the wide range of differential diagnoses. We report an extremely low birth weight infant (ELBW) born prematurely at 23 + 0 gestational weeks after twin pregnancy with a novel clinical manifestation with persistent hyperglycaemia as well as the known manifestations of disease-associated hypokinesia, renal salt wasting, and multifocal atrial tachycardia. Read More