Neonatal diabetes due to a truncating RFX6 mutation in an extremely low birth weight preterm infant with Mitchell-Riley syndrome.
Birgul Mutlu
✦ AI-curated · Sources linked
Case in brief
A preterm male infant, born at 31 weeks with a birth weight of 880 g, presented with duodenal atresia and severe hyperglycemia starting on postnatal day 4. He exhibited chronic diarrhea, pancreatic exocrine insufficiency, and cholestasis, with imaging revealing gallbladder aplasia and pancreatic hypoplasia. Genetic testing confirmed a truncating RFX6 mutation, leading to Mitchell-Riley syndrome. Despite intensive management, the infant experienced persistent metabolic instability and died on postnatal day 195.
What made this case unusual
The case illustrates the severe metabolic instability associated with a truncating RFX6 mutation in an extremely low birth weight preterm infant, a presentation that complicates clinical management.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for RFX6 mutations in preterm infants presenting with neonatal diabetes and associated gastrointestinal and hepatic abnormalities.
Why it matters
This case emphasizes the importance of early recognition and genetic diagnosis of Mitchell-Riley syndrome for effective management and genetic counseling.