AI Article Synopsis
- A 40-day-old infant exhibited milky serum, eruptive xanthomas, and symptoms like hepatosplenomegaly and lipemia retinalis, indicating a serious lipid metabolism issue.
- The child was diagnosed with lipoprotein lipase (LPL) deficiency via genetic testing, which affects how fats are processed in the body.
- Treatment involved reducing dietary fats and using medium-chain triglycerides and fibrates, highlighting the effectiveness of both pharmacological and dietary modifications in managing this condition early in life.
Article Abstract
A 40-day-infant having milky serum, eruptive xanthomas, hepatosplenomegaly, lipemia retinalis, high cholesterol and triglyceride, was found to have lipoprotein lipase (LPL) deficiency on genetic workup. Triglyceride decreased with dietary fat restriction, medium chain triglyceride and fibrates. LPL deficiency in early infancy can be treated with pharmacological and dietary interventions.
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