Familial lipoprotein lipase deficiency – neonatal presentation

Excerpt

A baby girl, born by normal spontaneous vaginal delivery with birth weight 3.845kg, was admitted for neonatal jaundice on day 2 of life. Her mother had maternal gestational diabetes on diet control. Her father was newly diagnosed with hyperlipidaemia on health screen and was put on diet control. There was no consanguinity. Her serum bilirubin level on admission was 186mmol/L with normal liver function test. However, the serum was noted to be very lipaemic when checking with bedside bilirubin machine and it persisted for few blood samples. The baby girl was on exclusive breastfeeding. In view of lipaemic serum, random lipid profile was checked and showed hypertriglyceridemia (TG) 10.6mmol/L (<1.7mmol/L) and cholesterol (TC) 3.1mmol/L (<5.2mmol/L). Repeated fasting sample showed persistent elevated triglyceride level 8.5mmol/L. Other blood parameters including amylase and liver enzymes were unremarkable. Physical examination showed no dysmorphic features. There was no hepatosplenomegaly or xanthoma. Ophthalmologically examination did not show any lipaedmia retinalis. …