Paediatrics and Child Health
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial chylomicronemia (Type 1 Hyperlipidemia). The infant was started on a low fat diet and advised a regular follow-up.
Journal of the College of Physicians and Surgeons Pakistan
(2008). Familial chylomicronemia in a nine months old infant. Journal of the College of Physicians and Surgeons Pakistan, 18(10), 655-6.
Available at: http://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/9