A Tunisian case of a rare cause of mixed hyperbilirubinemia : A Rotor Syndrome

Abstract

Rotor syndrome is a benign autosomal recessive disease and a rare cause of mixed direct and indirect hyperbilirubinemia. We reported a case of a 20-day-old girl with jaundice since birth with dysmorphic features. DNA extraction indicated homozygosity for a deletion of chromosome 12 fragment of more than 400 kb encompassing SLCO1B1, SLCO1B7 genes and exons 4-16 of SLCO1B3, confirming Rotor Syndrome diagnosis. This benign disease does not require therapeutic management.