INFANTILE-ONSET WERNER’S SYNDROME PRESENTING WITH CHOLESTASIS AND HYPERCHOLESTEROLEMIA: A RARE PHENOTYPIC VARIANT

Abstract

Werner's syndrome also known as progeria Adultorum, is a rare autosomal recessive disorder that accelerates the aging process due to mutation of the WRN gene which is involved in DNA repair. Patients with Werners syndrome typically develop normally until adolescence, by their middle age they begin to show signs of premature aging. We report a child who presented with cholestatic jaundice whose whole exome sequencing revealed presence of Werners Syndrome .This case is being reported due to rarity of the presentation of Werners syndrome at such a early age and also due to its rarity in its presentation as cholestatic jaundice .