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Lipaemia retinalis in a 29-day-old infant with type 1 hyperlipoproteinaemia
Insights
This study reports the youngest infant diagnosed with type 1 hyperlipoproteinaemia and lipaemia retinalis. Dietary fat restriction successfully normalized lipid levels and eye appearance.
Area of Science:
- Biochemistry
- Ophthalmology
- Genetics
Background:
- Type 1 hyperlipoproteinaemia is a rare genetic disorder characterized by elevated triglyceride levels.
- Lipaemia retinalis, a sign of severe hypertriglyceridaemia, presents as a milky appearance of retinal vessels.
Observation:
- A 29-day-old infant born of consanguineous parents presented with symptoms suggestive of hyperlipoproteinaemia.
- Ophthalmoscopic examination revealed lipaemia retinalis, with all retinal vessels appearing creamy.
- Biochemical tests confirmed hypertriglyceridaemia, hyperchylomicronaemia, and lipoprotein lipase deficiency.
Findings:
- The infant was diagnosed with type 1 hyperlipoproteinaemia, the youngest reported case associated with lipaemia retinalis.
- Limiting dietary fat intake led to normalization of plasma lipoprotein levels.
- The fundus condition also improved significantly following dietary intervention.
Implications:
- This case highlights the importance of early diagnosis and management of hyperlipoproteinaemia in infants.
- Dietary fat restriction is an effective treatment for lipaemia retinalis caused by lipoprotein lipase deficiency.
- Consanguinity may increase the risk of rare genetic metabolic disorders like type 1 hyperlipoproteinaemia.
Abstract:
A 29-day-old infant born of consanguineous parents had type 1 hyperlipoproteinaemia associated with lipaemia retinalis. Biochemical analyses disclosed hypertriglyceridaemia, hyperchylomicronaemia, and lipoprotein lipase deficiency. Ophthalmoscopically all retinal vessels had the creamy appearance of lipaemia retinalis. The plasma lipoprotein levels and fundus condition became normal after her ingestion of fat was limited. To our knowledge this is the youngest patient reported with type 1 hyperlipoproteinaemia associated with lipaemia retinalis.
