Mitchell-Riley Syndrome: A rare genetic disorder, case report

Abstract

Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the RFX6 gene. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive (Staphylococcus epidermidis) septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system.

Level of clinical evidence

4