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