An Infant with Milky Serum and a Rare Mutation

ABSTRACT

A 40-day-infant having milky serum, eruptive xanthomas,hepatosplenomegaly, lipemia retinalis, high cholesterol andtriglyceride, was found to have lipoprotein lipase (LPL) deficiencyon genetic workup. Triglyceride decreased with dietary fatrestriction, medium chain triglyceride and fibrates.LPLdeficiency in early infancy can be treated with pharmacologicaland dietary interventions.