Background: Mitchell-Riley Syndrome (OMIM # 615710) is a rare autosomal recessive disorder, characterized by a genetic mutation in the RFX6 gene. Clinically it is presented with triad of neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal atresia.
Case presentation: We reported a female Saudi twin of consanguineous parents presented with neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal atresia since birth who deceased at 5 months of age due to sepsis. Molecular genetics testing of RFX6 gene showed novel homozygous missense mutation; NM_173560.3: (c.983A>T; p.Asp328Val). We compared current patient to previously reported cases
Conclusion: We alert the clinicians to consider this syndrome in any neonate presenting with diabetes, gallbladder agenesis, and intestinal atresia.
Key words: diabetes, RFX6 gene, Mitchell-Riley Syndrome, gallbladder agenesis, intestinal atresia, pancreatic insufficiency
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