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Lipemia retinalis in a 27 day old neonate: A case report
Noopur DeokinandanNayak Shinkre1, Ugam P S Usgaonkar1
1Department of Ophthalmology, Goa Medical College, Bambolim, Goa, India.
Insights
Familial combined hyperlipidemia, a genetic condition, can cause high cholesterol or triglycerides. This case report details a rare instance in a neonate with severe lipemia retinalis.
Area of Science:
- Genetics
- Metabolic disorders
- Neonatal care
Background:
- Familial combined hyperlipidemia (FCH) is the most prevalent genetic lipid disorder.
- FCH is linked to early-onset coronary artery disease.
- Consanguinity increases the risk of genetic disorders.
Observation:
- A rare case of FCH is reported in a 27-day-old neonate.
- The neonate was born from a third-degree consanguineous marriage.
- The infant presented with grade III lipemia retinalis.
Findings:
- The neonate's lipemia retinalis was secondary to familial combined hyperlipidemia.
- This highlights the potential for severe metabolic complications in neonates with FCH.
- Early diagnosis and management are crucial.
Implications:
- This case underscores the importance of considering genetic lipid disorders in neonates, especially those with consanguineous parentage.
- It emphasizes the need for early screening and intervention to prevent severe complications like lipemia retinalis.
- Further research into FCH in pediatric populations is warranted.
Abstract:
Familial combined hyperlipidemia, which presents as hypercholesterolemia or hypertriglyceridemia, is the commonest form of genetic hyperlipidemia and is associated with premature coronary artery disease. This is a rare case report of a 27 day-old neonate born out of a third-degree consanguineous marriage, with grade III lipemia retinalis secondary to familial-combined hyperlipidemia.
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