VERY SEVERE HYPERTRIGLYCERIDEMIA IN SUSPECTED FAMILIAL CHYLOMICRONEMIA INFANT

Familial chylomicronemia in a nine months old infant.

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 ...

Familial Chylomicronemia Reported in a Ten Days Old Neonate

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. The authors report a neonate affected by familial hyperchylomicronemia, While being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. Based on this very abnormal lipid profile...

Blood Smear in a Patient With Very Severe Hypertriglyceridemia

The existence of multiple small fat droplets on the erythrocytes at peripheral blood smear is a very important characteristic in patients with very severe hypertriglyceridemia.

Severe hypertriglyceridemia in an infant of Arab descent.

Severe hypernatraemia in a very preterm infant.

Hypernatraemia in very low birth weight babies has been well documented and is usually attributable to excessive insensible water loss. We report a case in which, despite a peak serum sodium concentration of 204 mmol/l, the baby survived without morbidity. Treatment was simply to increase the intake of free water in Dextrose.