Pediatr Emerg Care 2017 Sep;33(9):e52-e54
From the *Shands Children's Hospital, Department of Pediatrics, †College of Medicine, ‡Division of Genetics and Metabolism, §Raymond C. Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, and ∥Congenital Heart Center, Department of Pediatrics, University of Florida, Gainesville, FL.
Lipoprotein lipase (LPL) deficiency is an autosomal recessive condition due to absent or decreased activity of LPL enzyme. The LPL deficiency is a rare condition that is mainly diagnosed in children, but there is no standard screening method at this time. In our report, we describe a 6-day-old male infant who was found to have hypertriglyceridemia after lipemia retinalis was diagnosed from a fundoscopic examination for nonaccidental trauma work-up. Read More