A Case of Neonatal Diabetes and Multiple Congenital Anomalies: Variant of Mitchell-riley/Martinez-frias Syndrome

Abstract

Neonatal diabetes along with congenital anomalies like duodenal atresia, tracheoesophageal fistula, intra uterine growth retardation, extrahepatic biliary obstruction and hypoplasia of pancreas is a very rare occurrence with evidence linking it to RFX6 gene mutation. The presence in newborn babies necessitates a detailed genetic evaluation and multidisciplinary management. Here, we present a preterm baby with persistent neonatal hyperglycemia and gastrointestinal anomalies similar to cases associated with Mitchel-riley/Martinez-frias syndrome.