Síndrome dismórfico em recém-nascido com hipocolesterolemia

Abstract

Introduction: There are various diseases caused by errors of the biosynthesis of cholesterol and Smith-Lemli-Opitz syndrome is the most frequent. Clinical Case: Infant admitted at 31 days of life with feeding difficulties since birth and failure to thrive. He presented dysmorphic craniofacial features and pos axial limb malformations, hypotonia, weak spontaneous movements and week reflexes. Investigation revealed hypocholesterolemia and an elevation of cholesterol precursors, which allowed the diagnosis of Smith-Lemli-Opitz syndrome, confirmed by molecular analysis. The administration of cholesterol resulted in weight gain. Discussion: The Smith-Lemli-Opitz syndrome is a multiple congenital malformation syndrome, of autosomal recessive transmission, resulting from an inborn error of cholesterol biosynthesis. It is caused by a defect in 7-dehydrocholesterol reductase, which decreases levels of cholesterol and elevates its precursors. Supplementation with cholesterol has been proven successful in the achievement of partial clinical improvements.