Kumar_2025_BMJ.Case.Rep_18_e268368

This report describes a newborn presenting with severe hypertriglyceridaemia, later identified as having a novel mutation in the lipoprotein lipase (LPL) gene. The infant was brought to a tertiary care unit with respiratory distress and febrile symptoms. Diagnostic investigations revealed significantly elevated serum triglyceride and cholesterol levels, alongside lipaemia retinalis, consistent with familial chylomicronaemia syndrome. Genetic analysis confirmed a homozygous variant in intron 5 of the LPL gene: c.776-5C>G, the first of its kind reported globally. Management included a fat-restricted diet with medium-chain triglyceride supplementation, resulting in a dramatic biochemical improvement. This case highlights the importance of early genetic evaluation, precise diagnosis and individualised treatment plans in rare metabolic disorders. Regular monitoring and a multidisciplinary approach were integral to achieving positive outcomes and preventing severe complications.