1. Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.
- Author
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Schoeneberg LA, Aguilera A, Raub L, Williams CA, and Gupta D
- Subjects
- Battered Child Syndrome, Fundus Oculi, Humans, Hyperlipidemias diet therapy, Hyperlipidemias enzymology, Hyperlipoproteinemia Type I diet therapy, Hypertriglyceridemia blood, Hypertriglyceridemia enzymology, Hypertriglyceridemia etiology, Hypertriglyceridemia genetics, Infant, Newborn, Male, Retina diagnostic imaging, Retinal Diseases complications, Tomography Scanners, X-Ray Computed, Hyperlipidemias diagnosis, Hyperlipoproteinemia Type I diagnosis, Retina pathology, Retinal Diseases pathology
- 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.
- Published
- 2017
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