Indian Pediatrics 2001; 38: 925  

Lipemia Retinalis

A 75-days-old female baby, born to a non consanguinous couple presented with abdominal distention and poor activity. Systemic examination revealed normal findings except hepatosplenomegaly. Blood collected for investigation showed lipemic serum. Possibility of hyperlipidemia was thought of and serum lipid profile showed elevated cholesterol (>1700 mg/dL) and triglyceride (>9000 mg/dL). Lipid profile of parents were normal. Ophthalmologic evalua-tion revealed lipemia retinalis (Fig.1). Lipemia retinalis is the spectacular appearance of the retinal vessels in severe hyperlipemia. The arteries and veins are distended, creamy white and indistinguishable from each other.

Familial chylomicronemia syndrome, an automsomal recessive condition, is usually detected in infancy accidentally. Older children may present with pancreatitis. The syndrome is produced by the deficiency of either lipoprotein lipase or Apoprotein C-II. Premature atherosclerotic cardiovascular disease is not usual.

The baby had a classical presentation with laetescent plasma, hepatosplenomegaly (inges-tion of chylomicrons by reticuloendothelial system) and lipemia retinalis. Diagnosis is by demonstrating elevated levels of triglycerides (>1000 mg/dl) and cholesterol. LPL and Apo C-II acitvity can be confirmed only in specialized centers. Mainstay of treatment is by restriction of fat in diet. Supplementation with medium chain triglycerides is beneficial. A child with pancreatitis not responding to dietary therapy can be given fresh frozen plasma which provides exogenous Apo C-II, thereby clearing hypertriglyceridemia.

Fig. 1. Photograph showing creamy white retinal vessels (Lipemia retinalis) in an infant with familial chylomicronemia.

V.T. Augustine Thomas,
S. Letha,
Department of Pediatrics,
Institute of Child Health,
Medical College, Kottayam,
Kerala 686 036, India.