Besides, polysplenia syndrome concomitant with situs inversus totalis and distal pancreatic hypoplasia are rare congenital anomalies.
Keywords: Polysplenia syndrome, situs inversus totalis, pancreas, pancreatic hypoplasia
PS concomitant with situs inversus totalis (SIT) and pancreatic hypoplasia is very rare in the general population.
Both magnetic resonance imaging (MRI) and CT demonstrated polysplenia, SIT, and pancreatic hypoplasia as incidental findings.
The Mitchell Riley Syndrome is a recently diagnosed genetic disorder characterised by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, malrotation, biliary atresia, and gallbladder aplasia or hypoplasia.
We report a case with neonatal diabetes, pancreatic hypoplasia gall bladder agenesis, duodenal atresia, haemochromatosis, hypospadias and intrauterine growth restriction with some additional features along with a different mutation in the RFX6 gene which has not been reported before.
The Mitchell-Riley syndrome (1) is a recently diagnosed genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia (2).