RESUMEN

Neonatal hypertriglyceridaemia is extremely rare in pediatrics. We narrowed down the possibilities to a case of lipoprotein lipase (LPL) deficiency through a designed process of elimination with this particular patient. The biochemical hallmark of the disease is the presence of hyperchylomicronemia in fasting plasma. The patient responded well to a special formula containing median chain triglyceride (MCT). This was one of the youngest cases of hyperlipidemia and hyperlipoproteinemia to be reported during the neonatal period. Therefore the approach is mainly through the process of elimination because of inadequate laboratory facilities.

Asunto(s)

Hiperlipoproteinemia Tipo IV/genética , Lipoproteína Lipasa/genética , Femenino , Humanos , Hiperlipoproteinemia Tipo IV/terapia , Recién Nacido , Lipoproteína Lipasa/deficiencia , Mutación