Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report

Abstract

With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple malformations. It presents the case of a six month old infant who fullfil the criteria that allow the clinical diagnosis of this syndrome. The detailed dysmorphological description of the case is made and it differs from the Smith-Lemli-Opitz type II syndrome. At present there is no treatment with proven effectiveness for patients with this syndrome; the supplementary administration of cholesterol in the diet constitutes a logical therapeutic perspective, as this should potentially increase their plasma and tissue levels.

Keywords

• síndrome de smith-lemli-opitz
• genética
• diagnóstico