hrp0086rfc5.6 | Management of Disorders of Insulin Secretion | ESPE2016
Poidvin Amelie
, Chandra Vikash
, Fauret-Amsellem Anne-Laure
, Cave Helene
, Beltrand Jacques
, Tubiana-Rufi Nadia
, Carel Jean-Claude
, Polak Michel
, Scharfmann Raphael
Background: Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell-Riley syndrome associating neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis, duodenal atresia, and severe chronic diarrhea. Nine cases have been reported so far and the condition has a poor prognosis with five of nine patients died before the age of 6 months.Objective and hypotheses: To report on the clinical management and outcome of tw...