title: Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.
abstract: 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. After dietary modification was done, his triglyceride levels decreased significantly, and there were no complications. When diagnosed later in life, recurrent pancreatitis can be a significant complication.
authors.affiliation: 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.
authors.forename: Laura A
authors.initials: LA
authors.lastname: Schoeneberg
authors.forename: Antonio
authors.initials: A
authors.lastname: Aguilera
authors.forename: Lindsay
authors.initials: L
authors.lastname: Raub
authors.forename: Charles A
authors.initials: CA
authors.lastname: Williams
authors.forename: Dipankar
authors.initials: D
authors.lastname: Gupta
mesh_terms: D001497:Battered Child Syndrome; D005654:Fundus Oculi; D006801:Humans; D006949:Hyperlipidemias / Q000175:diagnosis* / Q000178:diet therapy / Q000201:enzymology; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis* / Q000178:diet therapy; D015228:Hypertriglyceridemia / Q000097:blood / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D012160:Retina / Q000000981:diagnostic imaging / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications / Q000473:pathology*; D015898:Tomography Scanners, X-Ray Computed