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Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis
Laura A Schoeneberg1, Antonio Aguilera, Lindsay Raub
1From 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.
Insights
Lipoprotein lipase (LPL) deficiency, a rare genetic disorder, can be detected early in infants via hypertriglyceridemia. Prompt dietary changes can significantly reduce triglyceride levels and prevent complications like pancreatitis.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive condition characterized by absent or reduced LPL enzyme activity.
- Early diagnosis is crucial as LPL deficiency primarily affects children, yet no standard screening method exists.
- Later diagnosis can lead to severe complications, including recurrent pancreatitis.
Observation:
- A 6-day-old infant presented with hypertriglyceridemia, diagnosed during a fundoscopic examination for nonaccidental trauma work-up.
- Lipemia retinalis was observed, indicating extremely high triglyceride levels.
- The infant's condition was identified through routine examination rather than a specific screening protocol.
Findings:
- The infant was diagnosed with lipoprotein lipase deficiency.
- Following dietary modifications, the infant's triglyceride levels decreased significantly.
- No immediate complications were observed in the infant after intervention.
Implications:
- This case highlights the potential for early detection of LPL deficiency in newborns through non-specific examinations.
- Early diagnosis and management, including dietary changes, can prevent severe outcomes like pancreatitis.
- The findings underscore the need for developing standardized screening methods for LPL deficiency in infants.
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.
