hrp0084p3-846 | Fat | ESPE2015

Hypertriglicerydaemia in a Boy with Bardet-Biedl Syndrome – Case Report

Wojcik Malgorzata , Rogulska Katarzyna , Piotrowski Dawid , Zygmunt-Gorska Agata , Janus Dominika , Starzyk Jerzy B

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglice...