AUTHOR=Kambal Mohammed Abdulmageed , Al-Harbi Doha Ayed , Al-Sunaid Areej Rashed , Al-Atawi Mohsen Suliaman TITLE=Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6 JOURNAL=Frontiers in Pediatrics VOLUME=7 YEAR=2019 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2019.00243 DOI=10.3389/fped.2019.00243 ISSN=2296-2360 ABSTRACT=

We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). Despite intensive management, the patient died from severe Klebsiella pneumoniae sepsis at 5 months of age. This rare syndrome should be suspected in any neonate with hyperglycemia complicated by intestinal atresia and/or progressive cholestasis that could suggest biliary hypoplasia. Early recognition and diagnosis through genetic testing are essential for guiding aggressive clinical management as well as family counseling, particularly in light of the high possibility of early death in this highly complex disorder.