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.

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