-
Pediatric emergency care · Sep 2017
Case ReportsNon-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.
- Laura A Schoeneberg, Antonio Aguilera, Lindsay Raub, Charles A Williams, and Dipankar Gupta.
- 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.
- Pediatr Emerg Care. 2017 Sep 1; 33 (9): e52-e54.
AbstractLipoprotein 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.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..