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

Authors :
Schoeneberg LA
Aguilera A
Raub L
Williams CA
Gupta D
Source :
Pediatric emergency care [Pediatr Emerg Care] 2017 Sep; Vol. 33 (9), pp. e52-e54.
Publication Year :
2017

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.

Details

Language :
English
ISSN :
1535-1815
Volume :
33
Issue :
9
Database :
MEDLINE
Journal :
Pediatric emergency care
Publication Type :
Academic Journal
Accession number :
26569076
Full Text :
https://doi.org/10.1097/PEC.0000000000000584