Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis

Pediatr Emerg Care. 2017 Sep;33(9):e52-e54. doi: 10.1097/PEC.0000000000000584.

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.

Publication types

  • Case Reports

MeSH terms

  • Battered Child Syndrome
  • Fundus Oculi
  • Humans
  • Hyperlipidemias / diagnosis*
  • Hyperlipidemias / diet therapy
  • Hyperlipidemias / enzymology
  • Hyperlipoproteinemia Type I / diagnosis*
  • Hyperlipoproteinemia Type I / diet therapy
  • Hypertriglyceridemia / blood
  • Hypertriglyceridemia / enzymology
  • Hypertriglyceridemia / etiology
  • Hypertriglyceridemia / genetics
  • Infant, Newborn
  • Male
  • Retina / diagnostic imaging
  • Retina / pathology*
  • Retinal Diseases / complications
  • Retinal Diseases / pathology*
  • Tomography Scanners, X-Ray Computed