Author(s): Amorim, M ; Houghton, J ; Carmo, S ; Salva, I ; Pita, A ; Pereira-da-Silva, L
Date: 2015
Persistent ID: http://hdl.handle.net/10400.17/2479
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): Mitchell-Riley Syndrome; RFX6 Gene; Case Report; HDE GEN; HDE CIR PED; HDE UCI NEO
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
